NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) AND Stargardt disease
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 7, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250276.2
Allele description [Variation Report for NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)]
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024