NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro) AND Autosomal recessive retinitis pigmentosa
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 3, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001257906.1
Allele description [Variation Report for NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)]
NM_206933.4(USH2A):c.4033G>C (p.Ala1345Pro)
Condition(s)
- Name:
- Autosomal recessive retinitis pigmentosa
- Identifiers:
- MedGen: C0339526
Assertion and evidence details
Last Updated: Apr 23, 2022