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NM_000518.5(HBB):c.431del (p.His144fs) AND HEMOGLOBIN SAVERNE

Germline classification:
other (1 submission)
Last evaluated:
Dec 12, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000016588.13

Allele description [Variation Report for NM_000518.5(HBB):c.431del (p.His144fs)]

NM_000518.5(HBB):c.431del (p.His144fs)

Genes:
LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.431del (p.His144fs)
Other names:
HBB, 1-BP DEL, HIS143PRO, FS; H143P
HGVS:
  • NC_000011.10:g.5225611del
  • NG_000007.3:g.72005del
  • NG_046672.1:g.3546del
  • NG_053049.1:g.1932del
  • NG_059281.1:g.6461del
  • NM_000518.5:c.431delMANE SELECT
  • NP_000509.1:p.His144Profs
  • NP_000509.1:p.His144Profs
  • NP_000509.1:p.His144fs
  • LRG_1232t1:c.431del
  • LRG_1232:g.6461del
  • LRG_1232p1:p.His144fs
  • NC_000011.9:g.5246841del
  • NM_000518.4:c.431del
Protein change:
H144fs; HIS143PRO
Links:
OMIM: 141900.0255; dbSNP: rs63749858
NCBI 1000 Genomes Browser:
rs63749858
Molecular consequence:
  • NM_000518.5:c.431del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
HEMOGLOBIN SAVERNE
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036857OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A new beta-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG----AA).

Deidda G, Novelletto A, Hafez M, al-Tonbary Y, Felicetti L, Terrenato L, Colombo B.

Hemoglobin. 1990;14(4):431-40.

PubMed [citation]
PMID:
2283297

Details of each submission

From OMIM, SCV000036857.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Probable frameshift mutation resulting from deletion of the second base of the triplet coding for beta his 143; CAC becomes CCA (PRO). The last part of the beta gene code, 143rd residue on, becomes CAC-AGT-ATC-ACT-AAG-CTC-GCT-TTC-TTG-CTG-TCC-AAT-TTC-TAT-TAA, which reads pro-ser-ile-thr-lys-leu-ala-phe-leu-leu-ser-asn-phe-tyr-stop (COOH). Thus, the beta chain is 156 amino acids long rather than 146. See Delanoe et al. (1984).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024