NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) AND Thrombocytopenia, X-linked, with or without dyserythropoietic anemia

Clinical significance:Pathogenic (Last evaluated: May 11, 2017)

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:
RCV001542263.1

Allele description [Variation Report for NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)]

NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)

Gene:
GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)
Other names:
R216Q
HGVS:
  • NC_000023.11:g.48792371G>A
  • NG_008846.2:g.10798G>A
  • NM_002049.3:c.647G>A
  • NP_002040.1:p.Arg216Gln
  • NP_002040.1:p.Arg216Gln
  • LRG_559t1:c.647G>A
  • LRG_559:g.10798G>A
  • LRG_559p1:p.Arg216Gln
  • NC_000023.10:g.48650778G>A
  • P15976:p.Arg216Gln
Protein change:
ARG216GLN
Links:
UniProtKB: P15976#VAR_033114; OMIM: 305371.0006; dbSNP: rs104894809
NCBI 1000 Genomes Browser:
rs104894809
Molecular consequence:
  • NM_002049.3:c.647G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia (XLTDA)
Identifiers:
MONDO: MONDO:0010308; MedGen: C3550789; Orphanet: 67044; OMIM: 300367

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189416GeneReviewsno assertion criteria providedPathogenic
(May 11, 2017)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

GATA1-Related X-Linked Cytopenia.

Chou ST, Kacena MA, Weiss MJ, Raskind WH.

2006 Nov 22 [updated 2017 May 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

PubMed [citation]
PMID:
20301538

Details of each submission

From GeneReviews, SCV000189416.3

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

Description

Also reported in one family with "gray platelet syndrome".

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

Last Updated: Oct 16, 2021

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