NM_000518.4(HBB):c.389C>A (p.Ala130Asp) AND HEMOGLOBIN J (TAICHUNG)

Clinical significance:other (Last evaluated: Jul 20, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000016426.2

Allele description

NM_000518.4(HBB):c.389C>A (p.Ala130Asp)

Gene:
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.4(HBB):c.389C>A (p.Ala130Asp)
HGVS:
  • NC_000011.10:g.5225653G>T
  • NG_000007.3:g.71963C>A
  • NM_000518.4:c.389C>A
  • NP_000509.1:p.Ala130Asp
  • NC_000011.9:g.5246883G>T
Protein change:
A129D; ALA129ASP
Links:
OMIM: 141900.0138; OMIM: 141900.0141; dbSNP: rs111645889
GMAF:
0.0002(A), 111645889
NCBI 1000 Genomes Browser:
rs111645889
Molecular consequence:
  • NM_000518.4:c.389C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN J (TAICHUNG)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036694OMIMno assertion criteria providedother
(Jul 20, 2016)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala.

Blackwell RQ, Ro IH, Liu CS, Yang HJ, Wang CC, Huang JT.

Am J Phys Anthropol. 1969 May;30(3):389-91. No abstract available.

PubMed [citation]
PMID:
5791015

Details of each submission

From OMIM, SCV000036694.2

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

Description

See Blackwell et al. (1969).

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

Last Updated: Dec 15, 2017