NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002568707.3
Allele description [Variation Report for NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)]
NM_201253.3(CRB1):c.2466G>A (p.Trp822Ter)
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
-
Botrytis cinerea B05.10 hypothetical protein (BCIN_02g06300), mRNA
Botrytis cinerea B05.10 hypothetical protein (BCIN_02g06300), mRNAgi|1377703686|ref|XM_001550566.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024