NM_000222.3(KIT):c.910A>G (p.Thr304Ala) AND Piebaldism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001147190.5
Allele description [Variation Report for NM_000222.3(KIT):c.910A>G (p.Thr304Ala)]
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)
Condition(s)
- Name:
- Piebaldism
- Synonyms:
- Piebald skin depigmentation
- Identifiers:
- MONDO: MONDO:0008244; MedGen: C0080024; Orphanet: 2884; OMIM: 172800; Human Phenotype Ontology: HP:0007544
Assertion and evidence details
Last Updated: Sep 29, 2024