NM_024426.6(WT1):c.1074A>G (p.Gln358=) AND Drash syndrome
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 5, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002244657.2
Allele description [Variation Report for NM_024426.6(WT1):c.1074A>G (p.Gln358=)]
NM_024426.6(WT1):c.1074A>G (p.Gln358=)
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
-
Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), RefSeqGene on chromosome X
Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), RefSeqGene on chromosome Xgi|218505823|ref|NG_009175.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024