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NM_000518.5(HBB):c.5T>A (p.Val2Glu) AND HEMOGLOBIN DOHA

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:
RCV000016327.5

Allele description [Variation Report for NM_000518.5(HBB):c.5T>A (p.Val2Glu)]

NM_000518.5(HBB):c.5T>A (p.Val2Glu)

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_000518.5(HBB):c.5T>A (p.Val2Glu)
Other names:
HBB, NH2 EXTENSION, VAL1GLU; V1E
HGVS:
  • NC_000011.10:g.5227017A>T
  • NG_000007.3:g.70599T>A
  • NG_042296.1:g.548A>T
  • NG_046672.1:g.4952A>T
  • NG_059281.1:g.5055T>A
  • NM_000518.5:c.5T>AMANE SELECT
  • NP_000509.1:p.Val2Glu
  • LRG_1232t1:c.5T>A
  • LRG_1232:g.5055T>A
  • LRG_1232p1:p.Val2Glu
  • NC_000011.9:g.5248247A>T
Protein change:
V2E; VAL1GLU
Links:
OMIM: 141900.0069; dbSNP: rs33949930
NCBI 1000 Genomes Browser:
rs33949930
Molecular consequence:
  • NM_000518.5:c.5T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN DOHA
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036595OMIM
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

Ethnological significance of hemoglobin alpha-2 beta-2 121 LYS.

Kamel K, Hoerman K, Awny A.

Am J Phys Anthropol. 1967 Jan;26(1):107-8. No abstract available.

PubMed [citation]
PMID:
5633723

Details of each submission

From OMIM, SCV000036595.5

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

Description

Kamel et al. (1985) investigated a Qatari family with an electrophoretically fast-moving hemoglobin that they found contained an abnormal beta chain with the sequence met-glu-his-leu at the NH2-end. Substitution of glutamic acid for valine at beta 1 apparently prevented removal of the initiator methionine. The methionine was blocked by a molecule not completely identified. No clinical consequences were observed in heterozygotes.

This variant was numbered based on the first amino acid of the mature protein. In the gene-based system of counting, this variant is VAL2GLU.

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

Last Updated: Apr 23, 2022