NM_000377.3(WAS):c.1070G>A (p.Arg357Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001932251.3
Allele description [Variation Report for NM_000377.3(WAS):c.1070G>A (p.Arg357Gln)]
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln)
Condition(s)
- Name:
- X-linked severe congenital neutropenia (SCNX)
- Identifiers:
- MONDO: MONDO:0010294; MedGen: C1845987; Orphanet: 86788; OMIM: 300299
- Name:
- Thrombocytopenia 1
- Synonyms:
- THROMBOCYTOPENIA, X-LINKED, 1; Thrombocytopenia, X-linked; X-linked thrombocytopenia with normal platelets
- Identifiers:
- MONDO: MONDO:0010743; MedGen: C1839163; Orphanet: 268322; OMIM: 313900
- Name:
- Wiskott-Aldrich syndrome (WAS)
- Synonyms:
- Eczema thrombocytopenia immunodeficiency syndrome; Immunodeficiency 2; IMD 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010518; MedGen: C0043194; Orphanet: 906; OMIM: 301000
-
testis-specific Y-encoded protein 2 [Homo sapiens]
testis-specific Y-encoded protein 2 [Homo sapiens]gi|118918417|ref|NP_072095.2|Protein
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Last Updated: Sep 29, 2024