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NM_000558.5(HBA1):c.215C>A (p.Ala72Glu) AND HEMOGLOBIN J (HABANA)

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:
RCV000017064.3

Allele description [Variation Report for NM_000558.5(HBA1):c.215C>A (p.Ala72Glu)]

NM_000558.5(HBA1):c.215C>A (p.Ala72Glu)

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.215C>A (p.Ala72Glu)
Other names:
A71E
HGVS:
  • NC_000016.10:g.177048C>A
  • NG_000006.1:g.37911C>A
  • NG_046166.1:g.2531C>A
  • NG_059186.1:g.5398C>A
  • NM_000558.5:c.215C>AMANE SELECT
  • NP_000549.1:p.Ala72Glu
  • LRG_1225t1:c.215C>A
  • LRG_1225:g.5398C>A
  • LRG_1225p1:p.Ala72Glu
  • NC_000016.9:g.227047C>A
  • P69905:p.Ala72Glu
Protein change:
A72E; ALA71GLU
Links:
UniProtKB: P69905#VAR_002788; OMIM: 141800.0065; dbSNP: rs3180281
NCBI 1000 Genomes Browser:
rs3180281
Molecular consequence:
  • NM_000558.5:c.215C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN J (HABANA)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037336OMIM
no assertion criteria provided
other
(Jul 20, 2016) 		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

A new haemoglobin J-Habana-alpha71(E20) alanine leads to glutamic acid.

Colombo B, Vidal H, Kamuzora H, Lehmann H.

Biochim Biophys Acta. 1974 May 10;351(1):1-6. No abstract available.

PubMed [citation]
PMID:
4834679

Hemoglobin J Habana found in a cord blood of a Japanese.

Ohba Y, Yoshinaka H, Hattori Y, Matsuoka M, Miyaji T.

Hemoglobin. 1983;7(4):327-9. No abstract available.

PubMed [citation]
PMID:
6618889

Details of each submission

From OMIM, SCV000037336.2

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

Description

See Colombo et al. (1974) and Ohba et al. (1983).

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

Last Updated: Apr 23, 2022