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NM_000517.4(HBA2):c.83A>T (p.Glu28Val) AND HEMOGLOBIN SPANISH TOWN

Germline classification:
other (1 submission)
Last evaluated:
Mar 28, 2013
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:
RCV000016892.1

Allele description [Variation Report for NM_000517.4(HBA2):c.83A>T (p.Glu28Val)]

NM_000517.4(HBA2):c.83A>T (p.Glu28Val)

Genes:
LOC106804612:hemoglobin subunit alpha 2 recombination region [Gene]
HBA2:hemoglobin subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000517.4(HBA2):c.83A>T (p.Glu28Val)
Other names:
E27V
HGVS:
  • NC_000016.10:g.172995A>T
  • NG_000006.1:g.33858A>T
  • NG_046165.1:g.2734A>T
  • NG_059186.1:g.1345A>T
  • NG_059271.1:g.5149A>T
  • NM_000517.6:c.83A>TMANE SELECT
  • NP_000508.1:p.Glu28Val
  • LRG_1240t1:c.83A>T
  • LRG_1225:g.1345A>T
  • LRG_1240:g.5149A>T
  • LRG_1240p1:p.Glu28Val
  • NC_000016.9:g.222994A>T
  • P69905:p.Glu28Val
Protein change:
E28V; GLU27VAL
Links:
HBVAR: 42; UniProtKB: P69905#VAR_002750; OMIM: 141850.0009; dbSNP: rs281864823
NCBI 1000 Genomes Browser:
rs281864823
Molecular consequence:
  • NM_000517.6:c.83A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN SPANISH TOWN
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037163OMIM
no assertion criteria provided
other
(Mar 28, 2013) 		germlineliterature only

PubMed (2)
[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

Haemoglobin Spanish Town alpha27 Glu replaced by Val (B8).

Ahern E, Ahern V, Holder W, Palomino E, Serjeant GR, Serjeant BE, Forbes M, Brimhall B, Jones RT.

Biochim Biophys Acta. 1976 Apr 14;427(2):530-5. No abstract available.

PubMed [citation]
PMID:
1268216

Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val).

Cash FE, Monplaisir N, Goossens M, Liebhaber SA.

Blood. 1989 Aug 1;74(2):833-5.

PubMed [citation]
PMID:
2752146

Details of each submission

From OMIM, SCV000037163.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

See Ahern et al. (1976). Cash et al. (1989) demonstrated that the Spanish Town mutation is located in the HBA2 gene.

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

Last Updated: Apr 23, 2022