NM_000518.5(HBB):c.59A>G (p.Asn20Ser) AND Beta-plus-thalassemia

Clinical significance:Pathogenic (Last evaluated: May 1, 1989)

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:
RCV000016480.28

Allele description [Variation Report for NM_000518.5(HBB):c.59A>G (p.Asn20Ser)]

NM_000518.5(HBB):c.59A>G (p.Asn20Ser)

Genes:
LOC106099062:HBB recombination region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
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.59A>G (p.Asn20Ser)
Other names:
N19S; 19A>G
HGVS:
  • NC_000011.10:g.5226963T>C
  • NG_000007.3:g.70653A>G
  • NG_042296.1:g.494T>C
  • NG_046672.1:g.4898T>C
  • NG_059281.1:g.5109A>G
  • NM_000518.5:c.59A>GMANE SELECT
  • NP_000509.1:p.Asn20Ser
  • LRG_1232t1:c.59A>G
  • LRG_1232:g.5109A>G
  • LRG_1232p1:p.Asn20Ser
  • NC_000011.9:g.5248193T>C
  • NM_000518.4:c.59A>G
  • P68871:p.Asn20Ser
  • c.56A>G
  • p.Asn19Ser
Protein change:
N20S; ASN19SER
Links:
UniProtKB: P68871#VAR_002888; OMIM: 141900.0168; dbSNP: rs33972047
NCBI 1000 Genomes Browser:
rs33972047
Molecular consequence:
  • NM_000518.5:c.59A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000036748OMIMno assertion criteria providedPathogenic
(May 1, 1989)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Molecular characterization of beta-globin gene mutations in Malay patients with Hb E-beta-thalassaemia and thalassaemia major.

Yang KG, Kutlar F, George E, Wilson JB, Kutlar A, Stoming TA, Gonzalez-Redondo JM, Huisman TH.

Br J Haematol. 1989 May;72(1):73-80.

PubMed [citation]
PMID:
2736244

Details of each submission

From OMIM, SCV000036748.2

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

Description

Yang et al. (1989) found an A-to-G change in codon 19 resulting in beta-plus-thalassemia (613985) in a Malaysian.

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

Last Updated: Nov 27, 2021

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