Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000377.2(WAS):c.1442T>A (p.Ile481Asn)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Mar 15, 2002
Accession:
VCV000011127.1
Variation ID:
11127
Description:
single nucleotide variant
Help

NM_000377.2(WAS):c.1442T>A (p.Ile481Asn)

Allele ID
26166
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp11.23
Genomic location
X: 48689423 (GRCh38) GRCh38 UCSC
X: 48547812 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.48547812T>A
NC_000023.11:g.48689423T>A
NM_000377.2:c.1442T>A NP_000368.1:p.Ile481Asn missense
... more HGVS
Protein change
I481N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA121363
UniProtKB: P42768#VAR_033257
OMIM: 300392.0014
dbSNP: rs132630276
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Mar 15, 2002 RCV000011876.19
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WAS - - GRCh38
GRCh37
134 294

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 15, 2002)
no assertion criteria provided
Method: literature only
THROMBOCYTOPENIA, X-LINKED, INTERMITTENT
Allele origin: germline
OMIM
Accession: SCV000032109.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Notarangelo LD Blood 2002 PMID: 11877312

Record last updated Jan 16, 2020