NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002504753.3
Allele description [Variation Report for NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)]
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
Condition(s)
- Name:
- Pigmented paravenous retinochoroidal atrophy
- Synonyms:
- Pigmented paravenous chorioretinal atrophy
- Identifiers:
- MONDO: MONDO:0008246; MedGen: C1868310; Orphanet: 251295; OMIM: 172870
- Name:
- Retinitis pigmentosa 12 (RP12)
- Synonyms:
- RP 12; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010818; MedGen: C1838647; Orphanet: 791; OMIM: 600105
Assertion and evidence details
Last Updated: Oct 26, 2024