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NM_000518.4(HBB):c.71T>A (p.Val24Asp) AND HEMOGLOBIN STRASBOURG

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:
RCV000016608.4

Allele description [Variation Report for NM_000518.4(HBB):c.71T>A (p.Val24Asp)]

NM_000518.4(HBB):c.71T>A (p.Val24Asp)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.4(HBB):c.71T>A (p.Val24Asp)
Other names:
V23D
HGVS:
  • NC_000011.10:g.5226951A>T
  • NG_000007.3:g.70665T>A
  • NG_042296.1:g.482A>T
  • NG_046672.1:g.4886A>T
  • NG_059281.1:g.5121T>A
  • NM_000518.5:c.71T>AMANE SELECT
  • NP_000509.1:p.Val24Asp
  • LRG_1232t1:c.71T>A
  • LRG_1232:g.5121T>A
  • LRG_1232p1:p.Val24Asp
  • NC_000011.9:g.5248181A>T
  • NM_000518.4:c.71T>A
  • P68871:p.Val24Asp
Protein change:
V24D; VAL23ASP
Links:
HBVAR: 269; UniProtKB: P68871#VAR_002899; OMIM: 141900.0271; dbSNP: rs33945546
NCBI 1000 Genomes Browser:
rs33945546
Molecular consequence:
  • NM_000518.5:c.71T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN STRASBOURG
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036877OMIM
no assertion criteria provided
other
(Dec 12, 2017) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Hb Strasbourg alpha2beta2 20 (B2) Val leads to Asp: a variant at the same locus as Hb Olympia beta 20 Val leads to Met.

Garel MC, Blouquit Y, Arous N, Rosa J.

FEBS Lett. 1976 Dec 15;72(1):1-4. No abstract available.

PubMed [citation]
PMID:
1001451

Nucleotide sequence of human beta globin messenger RNA.

Forget BG.

Hemoglobin. 1977;1(8):879-81. Review. No abstract available.

PubMed [citation]
PMID:
342458
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000036877.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Hb Strasbourg was first observed in a female from northern Portugal and in 1 of her 2 children. Garel et al. (1976) incorrectly thought that the valine at position 20 was substituted. See Forget (1977). Bisse et al. (1998) provided information on a German family with the same abnormality. This was the second observation of this hemoglobin variant. The 23-year-old propositus had a hemoglobin level of 19.8 g/dl. The variant was shown to have a high oxygen affinity. Codon 23 of the HBB gene was changed from GTT (val) to GAT (asp).

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

Last Updated: Apr 23, 2022