NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 18, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001075136.1
Allele description [Variation Report for NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly)]
NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly)
Condition(s)
- Name:
- Retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
Assertion and evidence details
Last Updated: Mar 5, 2024