NM_024426.6(WT1):c.1173T>A (p.Ser391Arg) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003802437.1
Allele description [Variation Report for NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)]
NM_024426.6(WT1):c.1173T>A (p.Ser391Arg)
Condition(s)
- Name:
- Drash syndrome (DDS)
- Synonyms:
- WILMS TUMOR AND PSEUDO- OR TRUE HERMAPHRODITISM; Wilms tumor and pseudohermaphroditism; Nephropathy, wilms tumor, and genital anomalies; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008682; MedGen: C0950121; Orphanet: 220; OMIM: 194080
- Name:
- Frasier syndrome
- Identifiers:
- MONDO: MONDO:0007635; MeSH: D052159; MedGen: C0950122; Orphanet: 347; OMIM: 136680
- Name:
- Wilms tumor 1 (WT1)
- Synonyms:
- Wilms tumor, somatic
- Identifiers:
- MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070
- Name:
- 11p partial monosomy syndrome (WAGR)
- Synonyms:
- CHROMOSOME 11p13 DELETION SYNDROME; WAGR syndrome; WAGR Complex; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008681; MedGen: C0206115; Orphanet: 893; OMIM: 194072
Assertion and evidence details
Last Updated: Jun 9, 2024