NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 26, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001055816.7
Allele description [Variation Report for NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro)]
NM_201253.3(CRB1):c.4169G>C (p.Arg1390Pro)
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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DC046866 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus lae...
DC046866 Osada Taira anterior endomesoderm (AEM) pCS105 cDNA library Xenopus laevis cDNA clone xlk135a17ex 5', mRNA sequencegi|118950082|gnl|dbEST|43253050|dbj 6866.1|Nucleotide
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JGI_CAAO9104.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO9104 5', mRNA...
JGI_CAAO9104.fwd NIH_XGC_tropTe5 Xenopus tropicalis cDNA clone CAAO9104 5', mRNA sequencegi|58770714|gnl|dbEST|27664106|gb|C 87.1|Nucleotide
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Ribes magellanicum voucher EIF 11836 small subunit ribosomal RNA gene, partial s...
Ribes magellanicum voucher EIF 11836 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|2443741630|gb|OQ430054.1|Nucleotide
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Last Updated: Sep 29, 2024