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NM_000558.3(HBA1):c.72G>T (p.Glu24Asp) AND HEMOGLOBIN LISBON

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:
RCV000017208.3

Allele description [Variation Report for NM_000558.3(HBA1):c.72G>T (p.Glu24Asp)]

NM_000558.3(HBA1):c.72G>T (p.Glu24Asp)

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_000558.3(HBA1):c.72G>T (p.Glu24Asp)
Other names:
E23D
HGVS:
  • NC_000016.10:g.176788G>T
  • NG_000006.1:g.37651G>T
  • NG_046166.1:g.2271G>T
  • NG_059186.1:g.5138G>T
  • NM_000558.5:c.72G>TMANE SELECT
  • NP_000549.1:p.Glu24Asp
  • LRG_1225t1:c.72G>T
  • LRG_1225:g.5138G>T
  • LRG_1225p1:p.Glu24Asp
  • NC_000016.9:g.226787G>T
  • NM_000558.3:c.72G>T
Protein change:
E24D; GLU23ASP
Links:
HBVAR: 36; OMIM: 141800.0188; dbSNP: rs281860684
NCBI 1000 Genomes Browser:
rs281860684
Molecular consequence:
  • NM_000558.5:c.72G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
HEMOGLOBIN LISBON
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037480OMIM
no assertion criteria provided
other
(Jul 20, 2016) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Two new alpha chain variants found during glycated hemoglobin screening: Hb Tatras [alpha 7(A5)Lys-->Asn] and HB Lisbon [alpha 23(B4)Glu-->Asp].

Wajcman H, Bost M, Blouquiit Y, Préhu C, Riou J, Galacteros F.

Hemoglobin. 1994 Nov;18(6):427-32. No abstract available.

PubMed [citation]
PMID:
7713746

Details of each submission

From OMIM, SCV000037480.2

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

Description

In a 31-year-old man of Portuguese origin who had suffered from diabetes mellitus since the age of 15 years, Wajcman et al. (1994) found an abnormal hemoglobin during measurement of Hb A1c by an isoelectrofocusing study. There were no abnormal hematologic features.

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

Last Updated: Apr 23, 2022