NM_024426.6(WT1):c.126C>A (p.Gly42=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003789991.1
Allele description [Variation Report for NM_024426.6(WT1):c.126C>A (p.Gly42=)]
NM_024426.6(WT1):c.126C>A (p.Gly42=)
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
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Ezh1 enhancer of zeste 1 polycomb repressive complex 2 subunit [Rattus norvegicu...
Ezh1 enhancer of zeste 1 polycomb repressive complex 2 subunit [Rattus norvegicus]Gene ID:303547Gene
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303547[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Jun 9, 2024