NM_201253.3(CRB1):c.2868A>G (p.Gly956=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002106007.5
Allele description [Variation Report for NM_201253.3(CRB1):c.2868A>G (p.Gly956=)]
NM_201253.3(CRB1):c.2868A>G (p.Gly956=)
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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Sida golden mosaic Braco virus-[Jamaica:Liguanea:2008] clone pBrA4, complete genomegi|1464308035|ref|NC_038458.1|Nucleotide
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Uxs1 UDP-glucuronate decarboxylase 1 [Mus musculus]
Uxs1 UDP-glucuronate decarboxylase 1 [Mus musculus]Gene ID:67883Gene
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See more...Assertion and evidence details
Last Updated: May 7, 2024