NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002594786.3
Allele description [Variation Report for NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)]
NM_201253.3(CRB1):c.3145T>C (p.Ser1049Pro)
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
-
Mycobacterium tuberculosis strain H-20-0022 chromosome, complete genome
Mycobacterium tuberculosis strain H-20-0022 chromosome, complete genomegi|2744122044|gb|CP157903.1|Nucleotide
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Silene noctiflora isolate:OPL-1.1
Silene noctiflora isolate:OPL-1.1Silene noctiflora isolate:OPL-1.1 Genome sequencing and assemblyBioProject
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Hylarana latouchii
Hylarana latouchiiHylarana latouchii RefSeq GenomeBioProject
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024