NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter) AND Tyrosinase-negative oculocutaneous albinism
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jul 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000851372.4
Allele description [Variation Report for NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)]
NM_000372.5(TYR):c.1275C>G (p.Tyr425Ter)
Condition(s)
Assertion and evidence details
Last Updated: Jun 9, 2024