NM_000539.3(RHO):c.512C>A (p.Pro171Gln) AND Retinitis pigmentosa 4
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001265188.2
Allele description [Variation Report for NM_000539.3(RHO):c.512C>A (p.Pro171Gln)]
NM_000539.3(RHO):c.512C>A (p.Pro171Gln)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024