NM_000518.5(HBB):c.-80T>A AND Beta-plus-thalassemia

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1992)

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:
RCV000016725.29

Allele description [Variation Report for NM_000518.5(HBB):c.-80T>A]

NM_000518.5(HBB):c.-80T>A

Genes:
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC106099062:HBB recombination region [Gene]
LOC107133510:origin of replication at HBB [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000518.5(HBB):c.-80T>A
Other names:
-30T>A; -30 (T>A)
HGVS:
  • NC_000011.10:g.5227101A>T
  • NG_000007.3:g.70515T>A
  • NG_042296.1:g.632A>T
  • NG_046672.1:g.5036A>T
  • NG_059281.1:g.4971T>A
  • NM_000518.4(HBB):c.-80T>A
  • HBB:c.-80T>A
  • LRG_1232:g.4971T>A
  • NC_000011.9:g.5248331A>T
  • NM_000518.4(HBB):c.-80T>A
  • NM_000518.4:c.-80T>A
Nucleotide change:
-30T-A, PROMOTER
Links:
Genetic Testing Registry (GTR): GTR000500319; HBVAR: 765; OMIM: 141900.0377; dbSNP: rs33980857
NCBI 1000 Genomes Browser:
rs33980857

Condition(s)

Name:
Beta-plus-thalassemia
Identifiers:
MedGen: C3841475

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000036995OMIMno assertion criteria providedPathogenic
(Jan 1, 1992)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Beta-thalassemia due to a T----A mutation within the ATA box.

Fei YJ, Stoming TA, Efremov GD, Efremov DG, Battacharia R, Gonzalez-Redondo JM, Altay C, Gurgey A, Huisman TH.

Biochem Biophys Res Commun. 1988 Jun 16;153(2):741-7.

PubMed [citation]
PMID:
3382401

The T-->A mutation at position -30 of the beta-globin gene found in a Karachai patient with beta-thalassemia intermedia.

Fedorov AN, Rasulov EM, Bocharova TN, Smirnova EA, Limborska SA.

Hemoglobin. 1992;16(6):521-3. No abstract available.

PubMed [citation]
PMID:
1487424

Details of each submission

From OMIM, SCV000036995.3

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

Description

In a Turkish patient with beta-plus-thalassemia (613985), Fei et al. (1988) found a T-to-A change at position -30 (a TATA box mutation). Fedorov et al. (1992) found the T-30A mutation in a Karachai patient with beta-thalassemia intermedia.

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

Last Updated: Nov 27, 2021

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