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NM_000517.4(HBA2):c.47G>A (p.Gly16Asp) AND HEMOGLOBIN J (OXFORD)

Germline classification:
other (1 submission)
Last evaluated:
Oct 13, 2016
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:
RCV000016902.2

Allele description

NM_000517.4(HBA2):c.47G>A (p.Gly16Asp)

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.47G>A (p.Gly16Asp)
Other names:
G15D; Hb J-Oxford; Hb N-Cosenza
HGVS:
  • NC_000016.10:g.172959G>A
  • NG_000006.1:g.33822G>A
  • NG_046165.1:g.2698G>A
  • NG_059186.1:g.1309G>A
  • NG_059271.1:g.5113G>A
  • NM_000517.6:c.47G>AMANE SELECT
  • NP_000508.1:p.Gly16Asp
  • LRG_1240t1:c.47G>A
  • LRG_1225:g.1309G>A
  • LRG_1240:g.5113G>A
  • LRG_1240p1:p.Gly16Asp
  • NC_000016.9:g.222958G>A
  • NM_000517.4:c.47G>A
Protein change:
G16D; GLY15ASP
Links:
HBVAR: 17; OMIM: 141850.0010; dbSNP: rs34956202
NCBI 1000 Genomes Browser:
rs34956202
Molecular consequence:
  • NM_000517.6:c.47G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN J (OXFORD)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037173OMIM
no assertion criteria provided
other
(Oct 13, 2016) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Silvestroni, E., Bianco, I., Tentori, L., Vivaldi, G., Carta, S., Sorcini, M., Brancati, C. The structural abnormality of Hb N in a family from Cosenza. In: Proceedings of the 10th Congress of the European Society of Hematology, Strasbourg, 1965. Part II. : Basel and New York: S. Karger (pub.) 232-237, 1967.

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Summary from all submissions

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

Citations

PubMed

A NEW HAEMOGLOBIN-JA OXFORD FOUND DURING A SURVEY OF AN ENGLISH POPULATION.

LIDDELL J, BROWN D, BEALE D, LEHMANN H, HUNTSMAN RG.

Nature. 1964 Oct 17;204:269-70. No abstract available.

PubMed [citation]
PMID:
14212426

[A NEW HEMOGLOBIN I VARIANT: HBI-INTERLAKEN].

MARTI HR, PIK C, MOSIMANN P.

Acta Haematol. 1964 Jul;32:9-16. German. No abstract available.

PubMed [citation]
PMID:
14204459
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000037173.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

See Liddell et al. (1964), Marti et al. (1964), Silvestroni et al. (1967), and Harano et al. (1984). This is a mutation of the HBA2 gene (Cash et al., 1989).

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

Last Updated: Sep 26, 2021