NM_000377.3(WAS):c.134C>T (p.Thr45Met) AND Wiskott-Aldrich syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004760326.2
Allele description [Variation Report for NM_000377.3(WAS):c.134C>T (p.Thr45Met)]
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
Condition(s)
- 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
Assertion and evidence details
Last Updated: Nov 24, 2024