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NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) AND HEMOGLOBIN J (MEERUT)

Germline classification:
other (1 submission)
Last evaluated:
Jul 20, 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:
RCV000017060.11

Allele description [Variation Report for NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)]

NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)

Genes:
LOC106804613:hemoglobin subunit alpha 1 recombination region [Gene]
HBA1:hemoglobin subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu)
Other names:
A120E
HGVS:
  • NC_000016.10:g.177344C>A
  • NG_000006.1:g.38207C>A
  • NG_046166.1:g.2827C>A
  • NG_059186.1:g.5694C>A
  • NM_000558.5:c.362C>AMANE SELECT
  • NP_000549.1:p.Ala121Glu
  • LRG_1225t1:c.362C>A
  • LRG_1225:g.5694C>A
  • LRG_1225p1:p.Ala121Glu
  • NC_000016.9:g.227343C>A
  • P69905:p.Ala121Glu
Protein change:
A121E; ALA120GLU
Links:
UniProtKB: P69905#VAR_002833; OMIM: 141800.0060; dbSNP: rs63749927
NCBI 1000 Genomes Browser:
rs63749927
Molecular consequence:
  • NM_000558.5:c.362C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN J (MEERUT)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000037332OMIM
no assertion criteria provided
other
(Jul 20, 2016)
germlineliterature only

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

Kamuzora, H., Lehmann, H. A new hemoglobin variant. Hemoglobin J (Birmingham): alpha 120 (H3) ala-to-glu. Ann. Clin. Biochem. 11: 53-55, 1974.

Summary from all submissions

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

Citations

PubMed

Hemoglobin J Meerut: alpha120 Ala leads to Glu.

Blackwell RQ, Wong HB, Wang CL, Weng MI, Liu CS.

Biochim Biophys Acta. 1974 May 10;351(1):7-12. No abstract available.

PubMed [citation]
PMID:
4600474

Details of each submission

From OMIM, SCV000037332.2

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

Description

See Kamuzora and Lehmann (1974) and Blackwell et al. (1974).

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

Last Updated: Jul 23, 2024