NM_000550.3(TYRP1):c.1082-8G>A AND Oculocutaneous albinism type 3
- Germline classification:
- Likely benign (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:
- RCV000369178.6
Allele description [Variation Report for NM_000550.3(TYRP1):c.1082-8G>A]
NM_000550.3(TYRP1):c.1082-8G>A
Condition(s)
- Name:
- Oculocutaneous albinism type 3 (OCA3)
- Synonyms:
- ALBINISM III; Albinism 3; Albinism, oculocutaneous, type III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008747; MedGen: C0342683; Orphanet: 79433; OMIM: 203290
Assertion and evidence details
Last Updated: Sep 29, 2024