NM_000275.3(OCA2):c.1080C>T (p.Ser360=) AND Tyrosinase-positive oculocutaneous albinism
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003128241.1
Allele description
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)
Condition(s)
- Name:
- Tyrosinase-positive oculocutaneous albinism (OCA2)
- Synonyms:
- ALBINISM II; Albinism 2; Albinoidism; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008746; MedGen: C0268495; Orphanet: 79432; OMIM: 203200
Assertion and evidence details
Last Updated: Mar 10, 2024