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NM_000558.5(HBA1):c.191C>A (p.Ala64Asp) AND HEMOGLOBIN J (PONTOISE)

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:
RCV000017142.4

Allele description [Variation Report for NM_000558.5(HBA1):c.191C>A (p.Ala64Asp)]

NM_000558.5(HBA1):c.191C>A (p.Ala64Asp)

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.191C>A (p.Ala64Asp)
Other names:
A63D
HGVS:
  • NC_000016.10:g.177024C>A
  • NG_000006.1:g.37887C>A
  • NG_046166.1:g.2507C>A
  • NG_059186.1:g.5374C>A
  • NM_000558.5:c.191C>AMANE SELECT
  • NP_000549.1:p.Ala64Asp
  • LRG_1225t1:c.191C>A
  • LRG_1225:g.5374C>A
  • LRG_1225p1:p.Ala64Asp
  • NC_000016.9:g.227023C>A
  • P69905:p.Ala64Asp
Protein change:
A64D; ALA63ASP
Links:
UniProtKB: P69905#VAR_002785; OMIM: 141800.0118; dbSNP: rs34502246
NCBI 1000 Genomes Browser:
rs34502246
Molecular consequence:
  • NM_000558.5:c.191C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN J (PONTOISE)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037414OMIM
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

Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.

Thillet J, Blouquit Y, Perrone F, Rosa J.

Biochim Biophys Acta. 1977 Mar 28;491(1):16-22.

PubMed [citation]
PMID:
849454

Hb J-Pontoise or alpha 2(63)(E12)Ala----Asp beta 2 in four members of a Spanish family.

Gonzalez Redondo JM, Wilson JB, Kutlar A, Huisman TH, Sicilia A, Romero C, Fernandes Fuertes I.

Hemoglobin. 1987;11(1):47-50. No abstract available.

PubMed [citation]
PMID:
3583765

Details of each submission

From OMIM, SCV000037414.3

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

Description

See Thillet et al. (1977) and Gonzalez Redondo et al. (1987).

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

Last Updated: Apr 23, 2022