NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) AND Autosomal recessive retinitis pigmentosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257905.9
Allele description [Variation Report for NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)]
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
Condition(s)
- Name:
- Autosomal recessive retinitis pigmentosa
- Identifiers:
- MedGen: C0339526
Assertion and evidence details
Last Updated: Oct 13, 2024