ClinVar Genomic variation as it relates to human health
NM_000518.4(HBB):c.[20A>T;271G>A]
Germline
Classification
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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.
(1)
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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.
Pathogenic
1
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
This haplotype includes the following variants
NM_000518.4(HBB):c.[20A>T;271G>A]
- Other names
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Hb S-Cameroon
HBB, GLU6VAL AND GLU90LYS
- Functional consequence
- -
- Links
- ClinGen: CA037981
- OMIM: 141900.0521
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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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. |
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| HBB | - | - |
GRCh38 GRCh37 |
22 | 1834 | |
| LOC106099062 | - | - | - | GRCh38 | - | 862 |
| LOC107133510 | - | - | - | GRCh38 | - | 1784 |
Conditions - Germline
| Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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HEMOGLOBIN S (CAMEROON)
|
Pathogenic (1) |
no assertion criteria provided
|
May 1, 2004 | RCV000016877.16 |
Submissions - Germline
| Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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
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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
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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
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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. |
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|---|---|---|---|---|---|
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Pathogenic
(May 01, 2004)
|
no assertion criteria provided
Method: literature only
|
HEMOGLOBIN S (CAMEROON)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000037147.3
First in ClinVar: Apr 04, 2013 Last updated: May 09, 2018 |
Comment on evidence:
Bundgaard et al. (2004) described a hemoglobin variant with 2 amino acid substitutions: Hb S, which is a glu6-to-val substitution (G6V; 141900.0243), and Hb Agenogi, … (more)
Bundgaard et al. (2004) described a hemoglobin variant with 2 amino acid substitutions: Hb S, which is a glu6-to-val substitution (G6V; 141900.0243), and Hb Agenogi, which is a glu90-to-lys substitution (G90K; 141900.0003). As the patient originated from Cameroon, the variant was designated Hb S (Cameroon). The authors stated that 4 double mutations on the same allele with the Hb S variant had previously been described: Hb S (Antilles) (141900.0244), Hb S (Providence) (141900.0246), Hb S (Oman) (141900.0245), and Hb S (Travis) (141900.0247). (less)
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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
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Sickle Cell Disease. | Adam MP | - | 2023 | PMID: 20301551 |
| HbSC disease: A time for progress. | Minniti C | American journal of hematology | 2022 | PMID: 36073655 |
| Unusually High Prevalence of Stroke and Cerebral Vasculopathy in Hemoglobin SC Disease: A Retrospective Single Institution Study. | Sathi BK | Acta haematologica | 2022 | PMID: 34749363 |
| Compound heterozygosity for hemoglobin S and hemoglobin E in a family of Proto-Australoid origin: a case report. | Basumatary N | Journal of medical case reports | 2021 | PMID: 34334128 |
| Allosteric control of hemoglobin S fiber formation by oxygen and its relation to the pathophysiology of sickle cell disease. | Henry ER | Proceedings of the National Academy of Sciences of the United States of America | 2020 | PMID: 32527859 |
| Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis. | Scheps KG | Human mutation | 2020 | PMID: 31553106 |
| The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center. | Nadkarni AH | International journal of laboratory hematology | 2019 | PMID: 30489691 |
| A case of variant hemoglobin (Hb Agenogi) with type 2 diabetes mellitus showed high HbA1c levels measured by immunoassay due to enhanced antigenicity. | Yamane Y | Diabetology international | 2018 | PMID: 31139532 |
| Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels. | Tin A | Nature communications | 2018 | PMID: 30315176 |
| Human candidate gene polymorphisms and risk of severe malaria in children in Kilifi, Kenya: a case-control association study. | Ndila CM | The Lancet. Haematology | 2018 | PMID: 30033078 |
| Prevalence of β-Thalassemia Mutations among Northeastern Iranian Population and their Impacts on Hematological Indices and Application of Prenatal Diagnosis, a Seven-Years Study. | Jaripour ME | Mediterranean journal of hematology and infectious diseases | 2018 | PMID: 30002798 |
| Sickle cell disease. | Kato GJ | Nature reviews. Disease primers | 2018 | PMID: 29542687 |
| Hemoglobin inhibits albumin uptake by proximal tubule cells: implications for sickle cell disease. | Eshbach ML | American journal of physiology. Cell physiology | 2017 | PMID: 28356267 |
| Revisiting the morbid genome of Mendelian disorders. | Abouelhoda M | Genome biology | 2016 | PMID: 27884173 |
| Hb Tianshui (HBB: C.119A > G) in Compound Heterozygosity with Hb S (HBB: C.20A > T) from Odisha, India. | Meher S | Hemoglobin | 2016 | PMID: 27254408 |
| Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19G > A) and Hb Osu Christiansborg (HBB: c.157G > A). | Boucher MO | Hemoglobin | 2016 | PMID: 27117572 |
| Hb Agenogi [β90(F6)Glu→Lys (GAG>AAG) HBB: c.271G>A)] in a Pregnant Thai Woman. | Panyasai S | Hemoglobin | 2016 | PMID: 26864977 |
| Hereditary Persistence of Fetal Hemoglobin Caused by Single Nucleotide Promoter Mutations in Sickle Cell Trait and Hb SC Disease. | Akinbami AO | Hemoglobin | 2016 | PMID: 26372199 |
| The Prevalence of Sickle Cell Disease and Its Implication for Newborn Screening in Germany (Hamburg Metropolitan Area). | Grosse R | Pediatric blood & cancer | 2016 | PMID: 26275168 |
| The compound state: Hb S/beta-thalassemia. | Figueiredo MS | Revista brasileira de hematologia e hemoterapia | 2015 | PMID: 26041415 |
| Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members. | Yawn BP | JAMA | 2014 | PMID: 25203083 |
| Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. | Tabor HK | American journal of human genetics | 2014 | PMID: 25087612 |
| Prevalence of the β(S) gene among scheduled castes, scheduled tribes and other backward class groups in Central India. | Shrikhande AV | Hemoglobin | 2014 | PMID: 25023085 |
| Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. | Kondani DA | Hemoglobin | 2014 | PMID: 25023084 |
| Influence of the βs haplotype and α-thalassemia on stroke development in a Brazilian population with sickle cell anaemia. | Domingos IF | Annals of hematology | 2014 | PMID: 24493127 |
| Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. | Rodriguez-Flores JL | Human mutation | 2014 | PMID: 24123366 |
| The distribution of haemoglobin C and its prevalence in newborns in Africa. | Piel FB | Scientific reports | 2013 | PMID: 23591685 |
| HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype. | Joly P | Haematologica | 2013 | PMID: 23065522 |
| An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. | Lazarin GA | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22975760 |
| Candidate human genetic polymorphisms and severe malaria in a Tanzanian population. | Manjurano A | PloS one | 2012 | PMID: 23144702 |
| Candidate polymorphisms and severe malaria in a Malian population. | Toure O | PloS one | 2012 | PMID: 22957039 |
| Hb S [β6(A3)Glu→Val, GAG>GTG] and β-globin gene cluster haplotype distribution in Mauritania. | Veten FM | Hemoglobin | 2012 | PMID: 22625666 |
| Hb S-São Paulo: a new sickling hemoglobin with stable polymers and decreased oxygen affinity. | Jorge SE | Archives of biochemistry and biophysics | 2012 | PMID: 22244832 |
| Hemoglobins S and C interfere with actin remodeling in Plasmodium falciparum-infected erythrocytes. | Cyrklaff M | Science (New York, N.Y.) | 2011 | PMID: 22075726 |
| In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene. | Alanazi M | PloS one | 2011 | PMID: 22028795 |
| A novel sickling hemoglobinopathy. | McFarlane A | The New England journal of medicine | 2011 | PMID: 22010933 |
| Sickle hemoglobin confers tolerance to Plasmodium infection. | Ferreira A | Cell | 2011 | PMID: 21529713 |
| Bone marrow necrosis and sickle cell crisis associated with double heterozygosity for HbS and HbOARAB. | Rossi P | American journal of hematology | 2011 | PMID: 20954261 |
| A family study of HbS in a Malay family by molecular analysis. | Hafiza A | The Malaysian journal of pathology | 2010 | PMID: 21329186 |
| Hemoglobin S/hemoglobin City of Hope compound heterozygote with a SubSaharan genetic background and severe bone marrow hypoplasia. | Paradisi I | Investigacion clinica | 2010 | PMID: 21302591 |
| Sickle-cell disease. | Rees DC | Lancet (London, England) | 2010 | PMID: 21131035 |
| Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis. | Piel FB | Nature communications | 2010 | PMID: 21045822 |
| A map of human genome variation from population-scale sequencing. | 1000 Genomes Project Consortium | Nature | 2010 | PMID: 20981092 |
| A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: phenotype and molecular characteristics. | Kutlar F | Acta haematologica | 2010 | PMID: 20861612 |
| Hearing impairment in persons with the hemoglobin SC genotype. | Onakoya PA | Ear, nose, & throat journal | 2010 | PMID: 20628988 |
| Genetic variation in human HBB is associated with Plasmodium falciparum transmission. | Gouagna LC | Nature genetics | 2010 | PMID: 20305663 |
| Compound heterozygosity for hemoglobin S [beta6(A3)Glu6Val] and hemoglobin Korle-Bu [beta73(E17)Asp73Asn]. | Akl PS | Laboratory hematology : official publication of the International Society for Laboratory Hematology | 2009 | PMID: 19758965 |
| Genome-wide and fine-resolution association analysis of malaria in West Africa. | Jallow M | Nature genetics | 2009 | PMID: 19465909 |
| Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations. | Thongnoppakhun W | The Journal of molecular diagnostics : JMD | 2009 | PMID: 19460936 |
| Newborn screening for hemoglobinopathies in California. | Michlitsch J | Pediatric blood & cancer | 2009 | PMID: 19061217 |
| Impaired cytoadherence of Plasmodium falciparum-infected erythrocytes containing sickle hemoglobin. | Cholera R | Proceedings of the National Academy of Sciences of the United States of America | 2008 | PMID: 18192399 |
| Haemoglobin S and haemoglobin C: 'quick but costly' versus 'slow but gratis' genetic adaptations to Plasmodium falciparum malaria. | Modiano D | Human molecular genetics | 2008 | PMID: 18048408 |
| Elderly survivors with homozygous sickle cell disease. | Serjeant GR | The New England journal of medicine | 2007 | PMID: 17287491 |
| How malaria has affected the human genome and what human genetics can teach us about malaria. | Kwiatkowski DP | American journal of human genetics | 2005 | PMID: 16001361 |
| Hb Hope [beta136(H14)Gly-->Asp (GGT-->GAT)]: interactions with Hb S [beta6(A3)Glu-->Val (GAG-->GTG)], other variant hemoglobins and thalassemia. | Ingle J | Hemoglobin | 2004 | PMID: 15658184 |
| A novel sickle hemoglobin: hemoglobin S-south end. | Luo HY | Journal of pediatric hematology/oncology | 2004 | PMID: 15543018 |
| A novel sickle hemoglobin: hemoglobin S-south end. | Luo HY | Journal of pediatric hematology/oncology | 2004 | PMID: 15543018 |
| A new variant with two amino acid substitutions: Hb S-Cameroon [beta6(A3)Glu-->Val;beta90(F6)Glu-->Lys]. | Bundgaard JR | Hemoglobin | 2004 | PMID: 15182055 |
| Hb Agenogi [P90(F6)Glu-->Lys] in an Argentinean girl. | Noguera NI | Hemoglobin | 2002 | PMID: 12144066 |
| A human embryonic hemoglobin inhibits Hb S polymerization in vitro and restores a normal phenotype to mouse models of sickle cell disease. | He Z | Proceedings of the National Academy of Sciences of the United States of America | 2002 | PMID: 12124399 |
| Primary role for adherent leukocytes in sickle cell vascular occlusion: a new paradigm. | Turhan A | Proceedings of the National Academy of Sciences of the United States of America | 2002 | PMID: 11880644 |
| Arginine supplementation of sickle transgenic mice reduces red cell density and Gardos channel activity. | Romero JR | Blood | 2002 | PMID: 11830454 |
| Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation. | Currat M | American journal of human genetics | 2002 | PMID: 11741197 |
| Peculiar elongated and sickle-shaped red blood corpuscles in a case of severe anemia. 1910. | Herrick JB | The Yale journal of biology and medicine | 2001 | PMID: 11501714 |
| Hb Köln [beta98(FG5)Val-->Met]: the first case found in a Chinese family. | Chang JG | Hemoglobin | 1998 | PMID: 9859938 |
| Hemoglobin Agenogi [beta 90 (F6) Glu-->Lys] found in Piedmont. Case report. | Scimè-Degani V | Panminerva medica | 1998 | PMID: 9785927 |
| Sequence of the -530 region of the beta-globin gene of sickle cell anemia patients with the Arabian haplotype. | Zeng FY | Human mutation | 1994 | PMID: 8199597 |
| Mortality in sickle cell disease. Life expectancy and risk factors for early death. | Platt OS | The New England journal of medicine | 1994 | PMID: 7993409 |
| Hb Agenogi [beta 90(F6)Glu-->Lys] identified by DNA analysis. | Paleari R | Hemoglobin | 1994 | PMID: 7852091 |
| Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants. | Flint J | Human genetics | 1993 | PMID: 8462981 |
| A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. | Lapouméroulie C | Human genetics | 1992 | PMID: 1376298 |
| Trapped-oligonucleotide nucleotide incorporation (TONI) assay, a simple method for screening point mutations. | Prezant TR | Human mutation | 1992 | PMID: 1301203 |
| Genetic disease detection and DNA amplification using cloned thermostable ligase. | Barany F | Proceedings of the National Academy of Sciences of the United States of America | 1991 | PMID: 1986365 |
| Polymerization and solubility of recombinant hemoglobins alpha 2 beta 2 (6Val) (Hb S) and alpha 2 beta 2(6Leu) (Hb Leu). | Adachi K | Hemoglobin | 1991 | PMID: 1802884 |
| A transgenic mouse model of sickle cell disorder. | Greaves DR | Nature | 1990 | PMID: 2296310 |
| Hb Agenogi [beta 90(F6)Glu----Lys] and beta zero-thalassemia in a Sicilian family. | Corso D | Hemoglobin | 1990 | PMID: 2079434 |
| Sickle cell trait in a white Jewish family presenting as splenic infarction at high altitude. | Shalev O | American journal of hematology | 1988 | PMID: 3354556 |
| Direct sequencing of enzymatically amplified human genomic DNA. | Engelke DR | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 3267215 |
| Molecular basis and prenatal diagnosis of beta-thalassemia. | Kazazian HH Jr | Blood | 1988 | PMID: 3048433 |
| Evidence of the African origin of sickle cell hemoglobin in western Sicily. | Sammarco P | Hemoglobin | 1988 | PMID: 2898460 |
| Structural analysis of the 5' flanking region of the beta-globin gene in African sickle cell anemia patients: further evidence for three origins of the sickle cell mutation in Africa. | Chebloune Y | Proceedings of the National Academy of Sciences of the United States of America | 1988 | PMID: 2898142 |
| Beta S gene in Sicily is in linkage disequilibrium with the Benin haplotype: implications for gene flow. | Ragusa A | American journal of hematology | 1988 | PMID: 2893541 |
| Rapid prenatal diagnosis of sickle cell anemia by a new method of DNA analysis. | Embury SH | The New England journal of medicine | 1987 | PMID: 3821796 |
| Position-independent, high-level expression of the human beta-globin gene in transgenic mice. | Grosveld F | Cell | 1987 | PMID: 3690667 |
| Globin gene-associated restriction-fragment-length polymorphisms in southern African peoples. | Ramsay M | American journal of human genetics | 1987 | PMID: 2891298 |
| Effect of amino acid at the beta 6 position on surface hydrophobicity, stability, solubility, and the kinetics of polymerization of hemoglobin. Comparisons among Hb A (Glu beta 6), Hb C (Lys beta 6), Hb Machida (Gln beta 6), and Hb S (Val beta 6). | Adachi K | The Journal of biological chemistry | 1987 | PMID: 2888754 |
| Geographical survey of beta S-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. | Kulozik AE | American journal of human genetics | 1986 | PMID: 3752087 |
| Clinical presentation of homozygous sickle cell disease. | Bainbridge R | The Journal of pediatrics | 1985 | PMID: 2582106 |
| Hematologically and genetically distinct forms of sickle cell anemia in Africa. The Senegal type and the Benin type. | Nagel RL | The New England journal of medicine | 1985 | PMID: 2579336 |
| Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. | Pagnier J | Proceedings of the National Academy of Sciences of the United States of America | 1984 | PMID: 6584911 |
| Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. | Antonarakis SE | Proceedings of the National Academy of Sciences of the United States of America | 1984 | PMID: 6583683 |
| Use of restriction endonucleases for mapping the allele for beta s-globin. | Wilson JT | Proceedings of the National Academy of Sciences of the United States of America | 1982 | PMID: 6285354 |
| Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. | Orkin SH | Nature | 1982 | PMID: 6280057 |
| Direct identification of sickle cell anemia by blot hybridization. | Geever RF | Proceedings of the National Academy of Sciences of the United States of America | 1981 | PMID: 6272289 |
| Sickle gene. Its origin and diffusion from West Africa. | Mears JG | The Journal of clinical investigation | 1981 | PMID: 6268660 |
| Evolution of the hemoglobin S and C genes in world populations. | Kan YW | Science (New York, N.Y.) | 1980 | PMID: 7384810 |
| Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. | Kan YW | Lancet (London, England) | 1978 | PMID: 81926 |
| Identification of a nondeletion defect in alpha-thalassemia. | Kan YW | The New England journal of medicine | 1977 | PMID: 909565 |
| Relatively benign sickle-cell anaemia in 60 patients aged over 30 in the West Indies. | Serjeant GR | British medical journal | 1968 | PMID: 4232783 |
| Hemoglobin agenogi (alpha 2 beta 2-90Lys), a slow-moving hemoglobin of a Japanese family resembling Hb-E. | Miyaji T | Clinica chimica acta; international journal of clinical chemistry | 1966 | PMID: 5972415 |
| THE FIRST OBSERVATION OF HOMOZYGOUS HEMOGLOBIN S-ALPHA THALASSEMIA DISEASE AND TWO TYPES OF SICKLE CELL THALASSEMIA DISEASE: (A) SICKLE CELL-ALPHA THALASSEMIA DISEASE, (B) SICKLE CELL-BETA THALASSEMIA DISEASE. | AKSOY M | Blood | 1963 | PMID: 14084634 |
| Abnormal human haemoglobins. III. The chemical difference between normal and sickle cell haemoglobins. | INGRAM VM | Biochimica et biophysica acta | 1959 | PMID: 13852872 |
| Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. | INGRAM VM | Nature | 1957 | PMID: 13464827 |
| A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. | INGRAM VM | Nature | 1956 | PMID: 13369537 |
| Protection afforded by sickle-cell trait against subtertian malareal infection. | ALLISON AC | British medical journal | 1954 | PMID: 13115700 |
| Further studies on hemoglobin C. I. A description of three additional families segregating for hemoglobin C and sickle cell hemoglobin. | NEEL JV | Blood | 1953 | PMID: 13066514 |
| Sickle cell anemia a molecular disease. | PAULING L | Science (New York, N.Y.) | 1949 | PMID: 15395398 |
| Chang, J. C., Temple, G. F., Trecartin, R. F., Kan, Y. W. Beta-zero thalassemia: a nonsense mutation in man, and its correction in vitro. (Abstract) Clin. Res. 27: 457A, 1979. | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=HBB | - | - | - | - |
| http://www.ncbi.nlm.nih.gov/books/NBK1377/ | - | - | - | - |
| https://globin.bx.psu.edu/hbvar/menu.html | - | - | - | - |
| Sherman, I. J. The sickling phenomenon, with special reference to the difference of sickle cell anemia from the sickle cell trait. Bull. Johns Hopkins Hosp. 67: 309-324, 1940. | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated Nov 10, 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.