NM_024426.6(WT1):c.197C>A (p.Ala66Glu) AND Drash syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003462916.1
Allele description [Variation Report for NM_024426.6(WT1):c.197C>A (p.Ala66Glu)]
NM_024426.6(WT1):c.197C>A (p.Ala66Glu)
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
Assertion and evidence details
Last Updated: Sep 29, 2024