ClinVar Genomic variation as it relates to human health
NM_000518.5(HBB):c.316-185C>T
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_000518.5(HBB):c.316-185C>T
Variation ID: 36316 Accession: VCV000036316.22
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11p15.4 11: 5225911 (GRCh38) [ NCBI UCSC ] 11: 5247141 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 4, 2013 Sep 29, 2024 Feb 1, 2024 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_000518.5:c.316-185C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
intron variant NC_000011.10:g.5225911G>A NC_000011.9:g.5247141G>A NG_000007.3:g.71705C>T NG_046672.1:g.3846G>A NG_053049.1:g.2232G>A NG_059281.1:g.6161C>T LRG_1232:g.6161C>T LRG_1232t1:c.316-185C>T - Protein change
- -
- Other names
-
IVS-II-666 C> T
IVS II-666 (C>T)
- Canonical SPDI
- NC_000011.10:5225910:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
0.28614 (G)
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
1000 Genomes Project 0.71386
1000 Genomes Project 30x 0.71690
Trans-Omics for Precision Medicine (TOPMed) 0.81971
The Genome Aggregation Database (gnomAD) 0.82712
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
HBB | - | - |
GRCh38 GRCh37 |
22 | 1834 | |
LOC107133510 | - | - | - | GRCh38 | - | 1784 |
LOC110006319 | - | - | - | GRCh38 | - | 984 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Benign (4) |
criteria provided, single submitter
|
Aug 18, 2011 | RCV000029983.14 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
|
May 15, 2015 | RCV000243814.19 | |
Benign (3) |
criteria provided, multiple submitters, no conflicts
|
Feb 1, 2024 | RCV000860761.17 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Benign
(-)
|
criteria provided, single submitter
Method: clinical testing
|
NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000304632.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
Benign
(May 15, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603885.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
|
|
Benign
(Feb 01, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001000905.6
First in ClinVar: Dec 17, 2019 Last updated: Feb 14, 2024 |
|
|
Benign
(-)
|
criteria provided, single submitter
Method: not provided
|
not provided
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005323382.1
First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024 |
|
|
Benign
(Nov 12, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV001857387.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
|
|
benign
(Aug 18, 2011)
|
criteria provided, single submitter
Method: curation, clinical testing
|
Beta Thalassemia
(autosomal unknown)
Affected status: unknown, yes
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052638.2
First in ClinVar: Apr 04, 2013 Last updated: Mar 28, 2022 |
Comment:
Converted during submission to Benign.
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Observation 485:
Tissue: Blood
Observation 486:
Tissue: Blood
Observation 487:
Tissue: Blood
Observation 488:
Tissue: Blood
Observation 489:
Tissue: Blood
Observation 490:
Tissue: Blood
Observation 491:
Tissue: Blood
Observation 492:
Tissue: Blood
Observation 493:
Tissue: Blood
Observation 494:
Tissue: Blood
Observation 495:
Tissue: Blood
Observation 496:
Tissue: Blood
Observation 497:
Tissue: Blood
Observation 498:
Tissue: Blood
Observation 499:
Tissue: Blood
Observation 500:
Tissue: Blood
Observation 501:
Tissue: Blood
Observation 502:
Tissue: Blood
Observation 503:
Tissue: Blood
Observation 504:
Tissue: Blood
Observation 505:
Tissue: Blood
Observation 506:
Tissue: Blood
Observation 507:
Tissue: Blood
Observation 508:
Tissue: Blood
Observation 509:
Tissue: Blood
Observation 510:
Tissue: Blood
Observation 511:
Tissue: Blood
Observation 512:
Tissue: Blood
Observation 513:
Tissue: Blood
Observation 514:
Tissue: Blood
Observation 515:
Tissue: Blood
Observation 516:
Tissue: Blood
Observation 517:
Tissue: Blood
Observation 518:
Tissue: Blood
Observation 519:
Tissue: Blood
Observation 520:
Tissue: Blood
Observation 521:
Tissue: Blood
Observation 522:
Tissue: Blood
Observation 523:
Tissue: Blood
Observation 524:
Tissue: Blood
Observation 525:
Tissue: Blood
Observation 526:
Tissue: Blood
Observation 527:
Tissue: Blood
Observation 528:
Tissue: Blood
Observation 529:
Tissue: Blood
Observation 530:
Tissue: Blood
Observation 531:
Tissue: Blood
Observation 532:
Tissue: Blood
Observation 533:
Tissue: Blood
Observation 534:
Tissue: Blood
Observation 535:
Tissue: Blood
Observation 536:
Tissue: Blood
Observation 537:
Tissue: Blood
Observation 538:
Tissue: Blood
Observation 539:
Tissue: Blood
Observation 540:
Tissue: Blood
Observation 541:
Tissue: Blood
Observation 542:
Tissue: Blood
Observation 543:
Tissue: Blood
Observation 544:
Tissue: Blood
Observation 545:
Tissue: Blood
Observation 546:
Tissue: Blood
Observation 547:
Tissue: Blood
Observation 548:
Tissue: Blood
Observation 549:
Tissue: Blood
Observation 550:
Tissue: Blood
Observation 551:
Tissue: Blood
Observation 552:
Tissue: Blood
Observation 553:
Tissue: Blood
Observation 554:
Tissue: Blood
Observation 555:
Tissue: Blood
Observation 556:
Tissue: Blood
Observation 557:
Tissue: Blood
Observation 558:
Tissue: Blood
Observation 559:
Tissue: Blood
Observation 560:
Tissue: Blood
Observation 561:
Tissue: Blood
Observation 562:
Tissue: Blood
Observation 563:
Tissue: Blood
Observation 564:
Tissue: Blood
Observation 565:
Tissue: Blood
Observation 566:
Tissue: Blood
Observation 567:
Tissue: Blood
Observation 568:
Tissue: Blood
Observation 569:
Tissue: Blood
Observation 570:
Tissue: Blood
Observation 571:
Tissue: Blood
Observation 572:
Tissue: Blood
Observation 573:
Tissue: Blood
Observation 574:
Tissue: Blood
Observation 575:
Tissue: Blood
Observation 576:
Tissue: Blood
Observation 577:
Tissue: Blood
Observation 578:
Tissue: Blood
Observation 579:
Tissue: Blood
Observation 580:
Tissue: Blood
Observation 581:
Tissue: Blood
Observation 582:
Tissue: Blood
Observation 583:
Tissue: Blood
Observation 584:
Tissue: Blood
Observation 585:
Tissue: Blood
Observation 586:
Tissue: Blood
Observation 587:
Tissue: Blood
Observation 588:
Tissue: Blood
Observation 589:
Tissue: Blood
Observation 590:
Tissue: Blood
Observation 591:
Tissue: Blood
Observation 592:
Tissue: Blood
Observation 593:
Tissue: Blood
Observation 594:
Tissue: Blood
Observation 595:
Tissue: Blood
Observation 596:
Tissue: Blood
Observation 597:
Tissue: Blood
Observation 598:
Tissue: Blood
Observation 599:
Tissue: Blood
Observation 600:
Tissue: Blood
Observation 601:
Tissue: Blood
Observation 602:
Tissue: Blood
Observation 603:
Tissue: Blood
Observation 604:
Tissue: Blood
Observation 605:
Tissue: Blood
Observation 606:
Tissue: Blood
Observation 607:
Tissue: Blood
Observation 608:
Tissue: Blood
Observation 609:
Tissue: Blood
Observation 610:
Tissue: Blood
Observation 611:
Tissue: Blood
Observation 612:
Tissue: Blood
Observation 613:
Tissue: Blood
Observation 614:
Tissue: Blood
Observation 615:
Tissue: Blood
Observation 616:
Tissue: Blood
Observation 617:
Tissue: Blood
Observation 618:
Tissue: Blood
Observation 619:
Tissue: Blood
Observation 620:
Tissue: Blood
Observation 621:
Tissue: Blood
Observation 622:
Tissue: Blood
Observation 623:
Tissue: Blood
Observation 624:
Tissue: Blood
Observation 625:
Tissue: Blood
Observation 626:
Tissue: Blood
Observation 627:
Tissue: Blood
Observation 628:
Tissue: Blood
Observation 629:
Tissue: Blood
Observation 630:
Tissue: Blood
Observation 631:
Tissue: Blood
Observation 632:
Tissue: Blood
Observation 633:
Tissue: Blood
Observation 634:
Tissue: Blood
Observation 635:
Tissue: Blood
Observation 636:
Tissue: Blood
Observation 637:
Tissue: Blood
Observation 638:
Tissue: Blood
Observation 639:
Tissue: Blood
Observation 640:
Tissue: Blood
Observation 641:
Tissue: Blood
Observation 642:
Tissue: Blood
Observation 643:
Tissue: Blood
Observation 644:
Tissue: Blood
Observation 645:
Tissue: Blood
Observation 646:
Tissue: Blood
Observation 647:
Tissue: Blood
Observation 648:
Tissue: Blood
Observation 649:
Tissue: Blood
Observation 650:
Tissue: Blood
Observation 651:
Tissue: Blood
Observation 652:
Tissue: Blood
Observation 653:
Tissue: Blood
Observation 654:
Tissue: Blood
Observation 655:
Tissue: Blood
Observation 656:
Tissue: Blood
Observation 657:
Tissue: Blood
Observation 658:
Tissue: Blood
Observation 659:
Tissue: Blood
Observation 660:
Tissue: Blood
Observation 661:
Tissue: Blood
Observation 662:
Tissue: Blood
Observation 663:
Tissue: Blood
Observation 664:
Tissue: Blood
Observation 665:
Tissue: Blood
Observation 666:
Tissue: Blood
Observation 667:
Tissue: Blood
Observation 668:
Tissue: Blood
Observation 669:
Tissue: Blood
Observation 670:
Tissue: Blood
Observation 671:
Tissue: Blood
Observation 672:
Tissue: Blood
Observation 673:
Tissue: Blood
Observation 674:
Tissue: Blood
Observation 675:
Tissue: Blood
Observation 676:
Tissue: Blood
Observation 677:
Tissue: Blood
Observation 678:
Tissue: Blood
Observation 679:
Tissue: Blood
Observation 680:
Tissue: Blood
Observation 681:
Tissue: Blood
Observation 682:
Tissue: Blood
Observation 683:
Tissue: Blood
Observation 684:
Tissue: Blood
Observation 685:
Tissue: Blood
Observation 686:
Tissue: Blood
Observation 687:
Tissue: Blood
Observation 688:
Tissue: Blood
Observation 689:
Tissue: Blood
Observation 690:
Tissue: Blood
Observation 691:
Tissue: Blood
Observation 692:
Tissue: Blood
Observation 693:
Tissue: Blood
Observation 694:
Tissue: Blood
Observation 695:
Tissue: Blood
Observation 696:
Tissue: Blood
Observation 697:
Tissue: Blood
Observation 698:
Tissue: Blood
Observation 699:
Tissue: Blood
Observation 700:
Tissue: Blood
Observation 701:
Tissue: Blood
Observation 702:
Tissue: Blood
Observation 703:
Tissue: Blood
Observation 704:
Tissue: Blood
Observation 705:
Tissue: Blood
Observation 706:
Tissue: Blood
Observation 707:
Tissue: Blood
Observation 708:
Tissue: Blood
Observation 709:
Tissue: Blood
Observation 710:
Tissue: Blood
Observation 711:
Tissue: Blood
Observation 712:
Tissue: Blood
Observation 713:
Tissue: Blood
Observation 714:
Tissue: Blood
Observation 715:
Tissue: Blood
Observation 716:
Tissue: Blood
Observation 717:
Tissue: Blood
Observation 718:
Tissue: Blood
Observation 719:
Tissue: Blood
Observation 720:
Tissue: Blood
Observation 721:
Tissue: Blood
Observation 722:
Tissue: Blood
Observation 723:
Tissue: Blood
Observation 724:
Tissue: Blood
Observation 725:
Tissue: Blood
Observation 726:
Tissue: Blood
Observation 727:
Tissue: Blood
Observation 728:
Tissue: Blood
Observation 729:
Tissue: Blood
Observation 730:
Tissue: Blood
Observation 731:
Tissue: Blood
Observation 732:
Tissue: Blood
Observation 733:
Tissue: Blood
Observation 734:
Tissue: Blood
Observation 735:
Tissue: Blood
Observation 736:
Tissue: Blood
Observation 737:
Tissue: Blood
Observation 738:
Tissue: Blood
Observation 739:
Tissue: Blood
Observation 740:
Tissue: Blood
Observation 741:
Tissue: Blood
Observation 742:
Tissue: Blood
Observation 743:
Tissue: Blood
Observation 744:
Tissue: Blood
Observation 745:
Tissue: Blood
Observation 746:
Tissue: Blood
Observation 747:
Tissue: Blood
Observation 748:
Tissue: Blood
Observation 749:
Tissue: Blood
Observation 750:
Tissue: Blood
Observation 751:
Tissue: Blood
Observation 752:
Tissue: Blood
Observation 753:
Tissue: Blood
Observation 754:
Tissue: Blood
Observation 755:
Tissue: Blood
Observation 756:
Tissue: Blood
Observation 757:
Tissue: Blood
Observation 758:
Tissue: Blood
Observation 759:
Tissue: Blood
Observation 760:
Tissue: Blood
Observation 761:
Tissue: Blood
Observation 762:
Tissue: Blood
Observation 763:
Tissue: Blood
Observation 764:
Tissue: Blood
Observation 765:
Tissue: Blood
Observation 766:
Tissue: Blood
Observation 767:
Tissue: Blood
Observation 768:
Tissue: Blood
Observation 769:
Tissue: Blood
Observation 770:
Tissue: Blood
Observation 771:
Tissue: Blood
Observation 772:
Tissue: Blood
Observation 773:
Tissue: Blood
Observation 774:
Tissue: Blood
Observation 775:
Tissue: Blood
Observation 776:
Tissue: Blood
Observation 777:
Tissue: Blood
Observation 778:
Tissue: Blood
Observation 779:
Tissue: Blood
Observation 780:
Tissue: Blood
Observation 781:
Tissue: Blood
Observation 782:
Tissue: Blood
Observation 783:
Tissue: Blood
Observation 784:
Tissue: Blood
Observation 785:
Tissue: Blood
Observation 786:
Tissue: Blood
Observation 787:
Tissue: Blood
Observation 788:
Tissue: Blood
Observation 789:
Tissue: Blood
Observation 790:
Tissue: Blood
Observation 791:
Tissue: Blood
Observation 792:
Tissue: Blood
Observation 793:
Tissue: Blood
Observation 794:
Tissue: Blood
Observation 795:
Tissue: Blood
Observation 796:
Tissue: Blood
Observation 797:
Tissue: Blood
Observation 798:
Tissue: Blood
Observation 799:
Tissue: Blood
Observation 800:
Tissue: Blood
Observation 801:
Tissue: Blood
Observation 802:
Tissue: Blood
Observation 803:
Tissue: Blood
Observation 804:
Tissue: Blood
Observation 805:
Tissue: Blood
Observation 806:
Tissue: Blood
Observation 807:
Tissue: Blood
Observation 808:
Tissue: Blood
Observation 809:
Tissue: Blood
Observation 810:
Tissue: Blood
Observation 811:
Tissue: Blood
Observation 812:
Tissue: Blood
Observation 813:
Tissue: Blood
Observation 814:
Tissue: Blood
Observation 815:
Tissue: Blood
Observation 816:
Tissue: Blood
Observation 817:
Tissue: Blood
Observation 818:
Tissue: Blood
Observation 819:
Tissue: Blood
Observation 820:
Tissue: Blood
Observation 821:
Tissue: Blood
Observation 822:
Tissue: Blood
Observation 823:
Tissue: Blood
Observation 824:
Tissue: Blood
Observation 825:
Tissue: Blood
Observation 826:
Tissue: Blood
Observation 827:
Tissue: Blood
Observation 828:
Tissue: Blood
Observation 829:
Tissue: Blood
Observation 830:
Tissue: Blood
Observation 831:
Tissue: Blood
Observation 832:
Tissue: Blood
Observation 833:
Tissue: Blood
Observation 834:
Tissue: Blood
Observation 835:
Tissue: Blood
Observation 836:
Tissue: Blood
Observation 837:
Tissue: Blood
Observation 838:
Tissue: Blood
Observation 839:
Tissue: Blood
Observation 840:
Tissue: Blood
Observation 841:
Tissue: Blood
Observation 842:
Tissue: Blood
Observation 843:
Tissue: Blood
Observation 844:
Tissue: Blood
Observation 845:
Tissue: Blood
Observation 846:
Tissue: Blood
Observation 847:
Tissue: Blood
Observation 848:
Tissue: Blood
Observation 849:
Tissue: Blood
Observation 850:
Tissue: Blood
Observation 851:
Tissue: Blood
Observation 852:
Tissue: Blood
Observation 853:
Tissue: Blood
Observation 854:
Tissue: Blood
Observation 855:
Tissue: Blood
Observation 856:
Tissue: Blood
Observation 857:
Tissue: Blood
Observation 858:
Tissue: Blood
Observation 859:
Tissue: Blood
Observation 860:
Tissue: Blood
Observation 861:
Tissue: Blood
Observation 862:
Tissue: Blood
Observation 863:
Tissue: Blood
Observation 864:
Tissue: Blood
Observation 865:
Tissue: Blood
Observation 866:
Tissue: Blood
Observation 867:
Tissue: Blood
Observation 868:
Tissue: Blood
Observation 869:
Tissue: Blood
Observation 870:
Tissue: Blood
Observation 871:
Tissue: Blood
Observation 872:
Tissue: Blood
Observation 873:
Tissue: Blood
Observation 874:
Tissue: Blood
Observation 875:
Tissue: Blood
Observation 876:
Tissue: Blood
Observation 877:
Tissue: Blood
Observation 878:
Tissue: Blood
Observation 879:
Tissue: Blood
Observation 880:
Tissue: Blood
Observation 881:
Tissue: Blood
Observation 882:
Tissue: Blood
Observation 883:
Tissue: Blood
Observation 884:
Tissue: Blood
Observation 885:
Tissue: Blood
Observation 886:
Tissue: Blood
Observation 887:
Tissue: Blood
Observation 888:
Tissue: Blood
Observation 889:
Tissue: Blood
Observation 890:
Tissue: Blood
Observation 891:
Tissue: Blood
Observation 892:
Tissue: Blood
Observation 893:
Tissue: Blood
Observation 894:
Tissue: Blood
Observation 895:
Tissue: Blood
Observation 896:
Tissue: Blood
Observation 897:
Tissue: Blood
Observation 898:
Tissue: Blood
Observation 899:
Tissue: Blood
Observation 900:
Tissue: Blood
Observation 901:
Tissue: Blood
Observation 902:
Tissue: Blood
Observation 903:
Tissue: Blood
Observation 904:
Tissue: Blood
Observation 905:
Tissue: Blood
Observation 906:
Tissue: Blood
Observation 907:
Tissue: Blood
Observation 908:
Tissue: Blood
Observation 909:
Tissue: Blood
Observation 910:
Tissue: Blood
Observation 911:
Tissue: Blood
Observation 912:
Tissue: Blood
Observation 913:
Tissue: Blood
Observation 914:
Tissue: Blood
Observation 915:
Tissue: Blood
Observation 916:
Tissue: Blood
Observation 917:
Tissue: Blood
Observation 918:
Tissue: Blood
Observation 919:
Tissue: Blood
Observation 920:
Tissue: Blood
Observation 921:
Tissue: Blood
Observation 922:
Tissue: Blood
Observation 923:
Tissue: Blood
Observation 924:
Tissue: Blood
Observation 925:
Tissue: Blood
Observation 926:
Tissue: Blood
Observation 927:
Tissue: Blood
Observation 928:
Tissue: Blood
Observation 929:
Tissue: Blood
Observation 930:
Tissue: Blood
Observation 931:
Tissue: Blood
Observation 932:
Tissue: Blood
Observation 933:
Tissue: Blood
Observation 934:
Tissue: Blood
Observation 935:
Tissue: Blood
Observation 936:
Tissue: Blood
Observation 937:
Tissue: Blood
Observation 938:
Tissue: Blood
Observation 939:
Tissue: Blood
Observation 940:
Tissue: Blood
Observation 941:
Tissue: Blood
Observation 942:
Tissue: Blood
Observation 943:
Tissue: Blood
Observation 944:
Tissue: Blood
Observation 945:
Tissue: Blood
Observation 946:
Tissue: Blood
Observation 947:
Tissue: Blood
Observation 948:
Tissue: Blood
Observation 949:
Tissue: Blood
Observation 950:
Tissue: Blood
Observation 951:
Tissue: Blood
Observation 952:
Tissue: Blood
Observation 953:
Tissue: Blood
Observation 954:
Tissue: Blood
Observation 955:
Tissue: Blood
Observation 956:
Tissue: Blood
Observation 957:
Tissue: Blood
Observation 958:
Tissue: Blood
Observation 959:
Tissue: Blood
Observation 960:
Tissue: Blood
Observation 961:
Tissue: Blood
Observation 962:
Tissue: Blood
Observation 963:
Tissue: Blood
Observation 964:
Tissue: Blood
Observation 965:
Tissue: Blood
Observation 966:
Tissue: Blood
Observation 967:
Tissue: Blood
Observation 968:
Tissue: Blood
Observation 969:
Tissue: Blood
Observation 970:
Tissue: Blood
Observation 971:
Tissue: Blood
Observation 972:
Tissue: Blood
Observation 973:
Tissue: Blood
Observation 974:
Tissue: Blood
Observation 975:
Tissue: Blood
Observation 976:
Tissue: Blood
Observation 977:
Tissue: Blood
Observation 978:
Tissue: Blood
Observation 979:
Tissue: Blood
Observation 980:
Tissue: Blood
Observation 981:
Tissue: Blood
Observation 982:
Tissue: Blood
Observation 983:
Tissue: Blood
Observation 984:
Tissue: Blood
Observation 985:
Tissue: Blood
Observation 986:
Tissue: Blood
Observation 987:
Tissue: Blood
Observation 988:
Tissue: Blood
Observation 989:
Tissue: Blood
Observation 990:
Tissue: Blood
Observation 991:
Tissue: Blood
Observation 992:
Tissue: Blood
Observation 993:
Tissue: Blood
Observation 994:
Tissue: Blood
Observation 995:
Tissue: Blood
Observation 996:
Tissue: Blood
Observation 997:
Tissue: Blood
Observation 998:
Tissue: Blood
Observation 999:
Tissue: Blood
Observation 1000:
Tissue: Blood
Observation 1001:
Tissue: Blood
Observation 1002:
Tissue: Blood
Observation 1003:
Tissue: Blood
Observation 1004:
Tissue: Blood
Observation 1005:
Tissue: Blood
Observation 1006:
Tissue: Blood
Observation 1007:
Tissue: Blood
Observation 1008:
Tissue: Blood
Observation 1009:
Tissue: Blood
Observation 1010:
Tissue: Blood
Observation 1011:
Tissue: Blood
Observation 1012:
Tissue: Blood
Observation 1013:
Tissue: Blood
Observation 1014:
Tissue: Blood
Observation 1015:
Tissue: Blood
Observation 1016:
Tissue: Blood
Observation 1017:
Tissue: Blood
Observation 1018:
Tissue: Blood
Observation 1019:
Tissue: Blood
Observation 1020:
Tissue: Blood
Observation 1021:
Tissue: Blood
Observation 1022:
Tissue: Blood
Observation 1023:
Tissue: Blood
Observation 1024:
Tissue: Blood
Observation 1025:
Tissue: Blood
Observation 1026:
Tissue: Blood
Observation 1027:
Tissue: Blood
Observation 1028:
Tissue: Blood
Observation 1029:
Tissue: Blood
Observation 1030:
Tissue: Blood
Observation 1031:
Tissue: Blood
Observation 1032:
Tissue: Blood
Observation 1033:
Tissue: Blood
Observation 1034:
Tissue: Blood
Observation 1035:
Tissue: Blood
Observation 1036:
Tissue: Blood
Observation 1037:
Tissue: Blood
Observation 1038:
Tissue: Blood
Observation 1039:
Tissue: Blood
Observation 1040:
Tissue: Blood
Observation 1041:
Tissue: Blood
Observation 1042:
Tissue: Blood
Observation 1043:
Tissue: Blood
Observation 1044:
Tissue: Blood
Observation 1045:
Tissue: Blood
Observation 1046:
Tissue: Blood
Observation 1047:
Tissue: Blood
Observation 1048:
Tissue: Blood
Observation 1049:
Tissue: Blood
Observation 1050:
Tissue: Blood
Observation 1051:
Tissue: Blood
Observation 1052:
Tissue: Blood
Observation 1053:
Tissue: Blood
Observation 1054:
Tissue: Blood
Observation 1055:
Tissue: Blood
Observation 1056:
Tissue: Blood
Observation 1057:
Tissue: Blood
Observation 1058:
Tissue: Blood
Observation 1059:
Tissue: Blood
Observation 1060:
Tissue: Blood
Observation 1061:
Tissue: Blood
Observation 1062:
Tissue: Blood
Observation 1063:
Tissue: Blood
Observation 1064:
Tissue: Blood
Observation 1065:
Tissue: Blood
Observation 1066:
Tissue: Blood
Observation 1067:
Tissue: Blood
Observation 1068:
Tissue: Blood
Observation 1069:
Tissue: Blood
Observation 1070:
Tissue: Blood
Observation 1071:
Tissue: Blood
Observation 1072:
Tissue: Blood
Observation 1073:
Tissue: Blood
Observation 1074:
Tissue: Blood
Observation 1075:
Tissue: Blood
Observation 1076:
Tissue: Blood
Observation 1077:
Tissue: Blood
Observation 1078:
Tissue: Blood
Observation 1079:
Tissue: Blood
Observation 1080:
Tissue: Blood
Observation 1081:
Tissue: Blood
Observation 1082:
Tissue: Blood
Observation 1083:
Tissue: Blood
Observation 1084:
Tissue: Blood
Observation 1085:
Tissue: Blood
Observation 1086:
Tissue: Blood
Observation 1087:
Tissue: Blood
Observation 1088:
Tissue: Blood
Observation 1089:
Tissue: Blood
Observation 1090:
Tissue: Blood
Observation 1091:
Tissue: Blood
Observation 1092:
Tissue: Blood
Observation 1093:
Tissue: Blood
Observation 1094:
Tissue: Blood
Observation 1095:
Tissue: Blood
Observation 1096:
Tissue: Blood
Observation 1097:
Tissue: Blood
Observation 1098:
Tissue: Blood
Observation 1099:
Tissue: Blood
Observation 1100:
Tissue: Blood
Observation 1101:
Tissue: Blood
Observation 1102:
Tissue: Blood
Observation 1103:
Tissue: Blood
Observation 1104:
Tissue: Blood
Observation 1105:
Tissue: Blood
Observation 1106:
Tissue: Blood
Observation 1107:
Tissue: Blood
Observation 1108:
Tissue: Blood
Observation 1109:
Tissue: Blood
Observation 1110:
Tissue: Blood
Observation 1111:
Tissue: Blood
Observation 1112:
Tissue: Blood
Observation 1113:
Tissue: Blood
Observation 1114:
Tissue: Blood
Observation 1115:
Tissue: Blood
Observation 1116:
Tissue: Blood
Observation 1117:
Tissue: Blood
Observation 1118:
Tissue: Blood
Observation 1119:
Tissue: Blood
Observation 1120:
Tissue: Blood
Observation 1121:
Tissue: Blood
Observation 1122:
Tissue: Blood
Observation 1123:
Tissue: Blood
Observation 1124:
Tissue: Blood
Observation 1125:
Tissue: Blood
Observation 1126:
Tissue: Blood
Observation 1127:
Tissue: Blood
Observation 1128:
Tissue: Blood
Observation 1129:
Tissue: Blood
Observation 1130:
Tissue: Blood
Observation 1131:
Tissue: Blood
Observation 1132:
Tissue: Blood
Observation 1133:
Tissue: Blood
Observation 1134:
Tissue: Blood
Observation 1135:
Tissue: Blood
Observation 1136:
Tissue: Blood
Observation 1137:
Tissue: Blood
Observation 1138:
Tissue: Blood
Observation 1139:
Tissue: Blood
Observation 1140:
Tissue: Blood
Observation 1141:
Tissue: Blood
Observation 1142:
Tissue: Blood
Observation 1143:
Tissue: Blood
Observation 1144:
Tissue: Blood
Observation 1145:
Tissue: Blood
Observation 1146:
Tissue: Blood
Observation 1147:
Tissue: Blood
Observation 1148:
Tissue: Blood
Observation 1149:
Tissue: Blood
Observation 1150:
Tissue: Blood
Observation 1151:
Tissue: Blood
Observation 1152:
Tissue: Blood
Observation 1153:
Tissue: Blood
Observation 1154:
Tissue: Blood
Observation 1155:
Tissue: Blood
Observation 1156:
Tissue: Blood
Observation 1157:
Tissue: Blood
Observation 1158:
Tissue: Blood
Observation 1159:
Tissue: Blood
Observation 1160:
Tissue: Blood
Observation 1161:
Tissue: Blood
Observation 1162:
Tissue: Blood
Observation 1163:
Tissue: Blood
Observation 1164:
Tissue: Blood
Observation 1165:
Tissue: Blood
Observation 1166:
Tissue: Blood
Observation 1167:
Tissue: Blood
Observation 1168:
Tissue: Blood
Observation 1169:
Tissue: Blood
Observation 1170:
Tissue: Blood
Observation 1171:
Tissue: Blood
Observation 1172:
Tissue: Blood
Observation 1173:
Tissue: Blood
Observation 1174:
Tissue: Blood
Observation 1175:
Tissue: Blood
Observation 1176:
Tissue: Blood
Observation 1177:
Tissue: Blood
Observation 1178:
Tissue: Blood
Observation 1179:
Tissue: Blood
Observation 1180:
Tissue: Blood
Observation 1181:
Tissue: Blood
Observation 1182:
Tissue: Blood
Observation 1183:
Tissue: Blood
Observation 1184:
Tissue: Blood
Observation 1185:
Tissue: Blood
Observation 1186:
Tissue: Blood
Observation 1187:
Tissue: Blood
Observation 1188:
Tissue: Blood
Observation 1189:
Tissue: Blood
Observation 1190:
Tissue: Blood
Observation 1191:
Tissue: Blood
Observation 1192:
Tissue: Blood
Observation 1193:
Tissue: Blood
Observation 1194:
Tissue: Blood
Observation 1195:
Tissue: Blood
Observation 1196:
Tissue: Blood
Observation 1197:
Tissue: Blood
Observation 1198:
Tissue: Blood
Observation 1199:
Tissue: Blood
Observation 1200:
Tissue: Blood
Observation 1201:
Tissue: Blood
Observation 1202:
Tissue: Blood
Observation 1203:
Tissue: Blood
Observation 1204:
Tissue: Blood
Observation 1205:
Tissue: Blood
Observation 1206:
Tissue: Blood
Observation 1207:
Tissue: Blood
Observation 1208:
Tissue: Blood
Observation 1209:
Tissue: Blood
Observation 1210:
Tissue: Blood
Observation 1211:
Tissue: Blood
Observation 1212:
Tissue: Blood
Observation 1213:
Tissue: Blood
Observation 1214:
Tissue: Blood
Observation 1215:
Tissue: Blood
Observation 1216:
Tissue: Blood
Observation 1217:
Tissue: Blood
Observation 1218:
Tissue: Blood
Observation 1219:
Tissue: Blood
Observation 1220:
Tissue: Blood
Observation 1221:
Tissue: Blood
Observation 1222:
Tissue: Blood
Observation 1223:
Tissue: Blood
Observation 1224:
Tissue: Blood
Observation 1225:
Tissue: Blood
Observation 1226:
Tissue: Blood
Observation 1227:
Tissue: Blood
Observation 1228:
Tissue: Blood
Observation 1229:
Tissue: Blood
Observation 1230:
Tissue: Blood
Observation 1231:
Tissue: Blood
Observation 1232:
Tissue: Blood
Observation 1233:
Tissue: Blood
Observation 1234:
Tissue: Blood
Observation 1235:
Tissue: Blood
Observation 1236:
Tissue: Blood
Observation 1237:
Tissue: Blood
Observation 1238:
Tissue: Blood
Observation 1239:
Tissue: Blood
Observation 1240:
Tissue: Blood
Observation 1241:
Tissue: Blood
Observation 1242:
Tissue: Blood
Observation 1243:
Tissue: Blood
Observation 1244:
Tissue: Blood
Observation 1245:
Tissue: Blood
Observation 1246:
Tissue: Blood
Observation 1247:
Tissue: Blood
Observation 1248:
Tissue: Blood
Observation 1249:
Tissue: Blood
Observation 1250:
Tissue: Blood
Observation 1251:
Tissue: Blood
Observation 1252:
Tissue: Blood
Observation 1253:
Tissue: Blood
Observation 1254:
Tissue: Blood
Observation 1255:
Tissue: Blood
Observation 1256:
Tissue: Blood
Observation 1257:
Tissue: Blood
Observation 1258:
Tissue: Blood
Observation 1259:
Tissue: Blood
Observation 1260:
Tissue: Blood
Observation 1261:
Tissue: Blood
Observation 1262:
Tissue: Blood
Observation 1263:
Tissue: Blood
Observation 1264:
Tissue: Blood
Observation 1265:
Tissue: Blood
Observation 1266:
Tissue: Blood
Observation 1267:
Tissue: Blood
Observation 1268:
Tissue: Blood
Observation 1269:
Tissue: Blood
Observation 1270:
Tissue: Blood
Observation 1271:
Tissue: Blood
Observation 1272:
Tissue: Blood
Observation 1273:
Tissue: Blood
Observation 1274:
Tissue: Blood
Observation 1275:
Tissue: Blood
Observation 1276:
Tissue: Blood
Observation 1277:
Tissue: Blood
Observation 1278:
Tissue: Blood
Observation 1279:
Tissue: Blood
Observation 1280:
Tissue: Blood
Observation 1281:
Tissue: Blood
Observation 1282:
Tissue: Blood
Observation 1283:
Tissue: Blood
Observation 1284:
Tissue: Blood
Observation 1285:
Tissue: Blood
Observation 1286:
Tissue: Blood
Observation 1287:
Tissue: Blood
Observation 1288:
Tissue: Blood
Observation 1289:
Tissue: Blood
Observation 1290:
Tissue: Blood
Observation 1291:
Tissue: Blood
Observation 1292:
Tissue: Blood
Observation 1293:
Tissue: Blood
Observation 1294:
Tissue: Blood
Observation 1295:
Tissue: Blood
Observation 1296:
Tissue: Blood
Observation 1297:
Tissue: Blood
Observation 1298:
Tissue: Blood
Observation 1299:
Tissue: Blood
Observation 1300:
Tissue: Blood
|
|
Benign
(Jan 01, 2018)
|
no assertion criteria provided
Method: research
|
beta Thalassemia
Affected status: unknown
Allele origin:
germline
|
College of Science, Al Muthanna University, Al Muthanna University
Accession: SCV000864061.1
First in ClinVar: Jan 22, 2019 Last updated: Jan 22, 2019 |
Age: 3-27 years
Sex: mixed
Ethnicity/Population group: Arabic Iraqi
Geographic origin: Iraq
|
|
Benign
(Nov 25, 2019)
|
no assertion criteria provided
Method: curation
|
beta Thalassemia
Affected status: unknown
Allele origin:
germline
|
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics
Accession: SCV001244413.1
First in ClinVar: May 04, 2020 Last updated: May 04, 2020 |
|
|
Benign
(Sep 16, 2020)
|
no assertion criteria provided
Method: clinical testing
|
Beta thalassemia
Affected status: unknown
Allele origin:
germline
|
Natera, Inc.
Accession: SCV001453772.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
|
Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
---|---|---|---|---|
Clinical Laboratory Manifestation and Molecular Diagnosis of β-Thalassemia Patients in Iraq. | AlMosawi RHN | Journal of pediatric hematology/oncology | 2020 | PMID: 31714438 |
Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population. | Sahoo SS | Hemoglobin | 2014 | PMID: 24099628 |
High-density SNP genotyping to define beta-globin locus haplotypes. | Liu L | Blood cells, molecules & diseases | 2009 | PMID: 18829352 |
https://ithanet.eu/db/ithagenes?ithaID=2056 | - | - | - | - |
Text-mined citations for rs1609812 ...
HelpRecord last updated Nov 03, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.