NM_201253.3(CRB1):c.1604_1607dup (p.Glu536fs) AND Retinitis pigmentosa 12
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001808918.1
Allele description [Variation Report for NM_201253.3(CRB1):c.1604_1607dup (p.Glu536fs)]
NM_201253.3(CRB1):c.1604_1607dup (p.Glu536fs)
Condition(s)
- 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: May 7, 2024