NM_201253.3(CRB1):c.3411T>C (p.Cys1137=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003810022.1
Allele description [Variation Report for NM_201253.3(CRB1):c.3411T>C (p.Cys1137=)]
NM_201253.3(CRB1):c.3411T>C (p.Cys1137=)
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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cytochrome c oxidase subunit I, partial (mitochondrion) [Pectinophora gossypiell...
cytochrome c oxidase subunit I, partial (mitochondrion) [Pectinophora gossypiella]gi|1632161161|gb|QCI56856.1|Protein
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MAG: CII protein [Bacteriophage sp.]
MAG: CII protein [Bacteriophage sp.]gi|2295371752|gb|UWI12788.1|Protein
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MAG TPA_asm: Bacteriophage sp. isolate ctzeA4, partial genome
MAG TPA_asm: Bacteriophage sp. isolate ctzeA4, partial genomegi|2057868576|tpg|BK050630.1|Nucleotide
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Taxonomy Links for Protein (Select 2294905677) (1)
Taxonomy
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PopSet Links for Nucleotide (Select 14192776) (1)
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See more...Assertion and evidence details
Last Updated: May 7, 2024