NM_000222.3(KIT):c.2586G>C (p.Leu862=) AND Partial albinism
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000312417.2
Allele description
NM_000222.3(KIT):c.2586G>C (p.Leu862=)
Condition(s)
- Name:
- Partial albinism (PBT)
- Synonyms:
- Piebaldism; Piebald Trait, SNAI2-Related; Piebald Trait, KIT-Related
- Identifiers:
- MONDO: MONDO:0008244; MedGen: C0080024; Orphanet: 2884; OMIM: 172800; Human Phenotype Ontology: HP:0007443
Assertion and evidence details
Last Updated: Jan 1, 2022