NM_201253.3(CRB1):c.2574C>T (p.Asn858=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001491095.6
Allele description [Variation Report for NM_201253.3(CRB1):c.2574C>T (p.Asn858=)]
NM_201253.3(CRB1):c.2574C>T (p.Asn858=)
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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BB713620 RIKEN full-length enriched, 2 cells egg Mus musculus cDNA clone B020048...
BB713620 RIKEN full-length enriched, 2 cells egg Mus musculus cDNA clone B020048D14 3', mRNA sequencegi|16066789|gnl|dbEST|9772693|dbj|B 20.1|Nucleotide
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C77112 Mouse 3.5-dpc blastocyst cDNA Mus musculus cDNA clone J0026B10 3', mRNA s...
C77112 Mouse 3.5-dpc blastocyst cDNA Mus musculus cDNA clone J0026B10 3', mRNA sequencegi|2517442|gnl|dbEST|1330851|dbj|C7 1|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024