NM_201253.3(CRB1):c.3348C>T (p.Phe1116=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003809452.1
Allele description
NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)
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
-
Saccharomyces cerevisiae S288C SUMO-targeted ubiquitin ligase complex subunit SL...
Saccharomyces cerevisiae S288C SUMO-targeted ubiquitin ligase complex subunit SLX8 (SLX8), partial mRNAgi|398364720|ref|NM_001179006.3|Nucleotide
-
Syntaxin 8 [Mus musculus]
Syntaxin 8 [Mus musculus]gi|29145046|gb|AAH48479.1|Protein
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Last Updated: May 7, 2024