NM_000558.5(HBA1):c.*46C>A AND alpha Thalassemia

Clinical significance:Benign (Last evaluated: Nov 25, 2019)

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:
RCV001078388.1

Allele description [Variation Report for NM_000558.5(HBA1):c.*46C>A]

NM_000558.5(HBA1):c.*46C>A

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.*46C>A
Other names:
+778 C>A
HGVS:
  • NC_000016.10:g.177457C>A
  • NG_000006.1:g.38320C>A
  • NG_046166.1:g.2940C>A
  • NG_059186.1:g.5807C>A
  • NM_000558.5:c.*46C>AMANE SELECT
  • LRG_1225t1:c.*46C>A
  • LRG_1225:g.5807C>A
  • NC_000016.9:g.227456C>A
  • NM_000558.3:c.*46C>A
  • NM_000558.4:c.*46C>A
Links:
dbSNP: rs141514155
NCBI 1000 Genomes Browser:
rs141514155
Molecular consequence:
  • NM_000558.5:c.*46C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
alpha Thalassemia
Synonyms:
A-Thalassemia
Identifiers:
MONDO: MONDO:0011399; MedGen: C0002312; Orphanet: 846; OMIM: 604131

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001244590The ITHANET community portal, The Cyprus Institute of Neurology and Geneticsno assertion criteria providedBenign
(Nov 25, 2019)
germlinecuration

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.

Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, Gaudiano C, Carestia C.

Hum Mutat. 2004 Oct;24(4):338-49.

PubMed [citation]
PMID:
15365991

Details of each submission

From The ITHANET community portal, The Cyprus Institute of Neurology and Genetics, SCV001244590.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 25, 2021

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