NM_201253.3(CRB1):c.1902A>G (p.Pro634=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Oct 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003783310.1
Allele description [Variation Report for NM_201253.3(CRB1):c.1902A>G (p.Pro634=)]
NM_201253.3(CRB1):c.1902A>G (p.Pro634=)
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
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Input DNA, Frog eye, Optic nerve crush, Operated eye, Replicate 2
Input DNA, Frog eye, Optic nerve crush, Operated eye, Replicate 2biosample
-
SRX14462560 (1)
SRA
-
SRX12007798 (1)
SRA
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Last Updated: May 7, 2024