NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) AND Retinitis pigmentosa 12
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376283.2
Allele description [Variation Report for NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)]
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
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
-
Tssr29415 AND (alive[prop]) (0)
Gene
-
Gm20172 AND (alive[prop]) (2)
Gene
-
Gm45392 predicted gene 45392 [Mus musculus]
Gm45392 predicted gene 45392 [Mus musculus]Gene ID:118567493Gene
-
Gm45392 AND (alive[prop]) (1)
Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024