NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) AND Waardenburg syndrome type 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 1, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000660204.2
Allele description [Variation Report for NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)]
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)
Condition(s)
- Name:
- Waardenburg syndrome type 3 (WS3)
- Synonyms:
- Klein-Waardenburg syndrome; Waardenburg syndrome with upper limb anomalies; White forelock (poliosis) syndrome with multiple congenital malformations; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007862; MedGen: C0079661; Orphanet: 3440; OMIM: 148820
Assertion and evidence details
Last Updated: Oct 8, 2024