NM_201253.3(CRB1):c.652+17C>T AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003813281.1
Allele description [Variation Report for NM_201253.3(CRB1):c.652+17C>T]
NM_201253.3(CRB1):c.652+17C>T
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
-
Homo sapiens fucosyltransferase 3 (Lewis blood group) (FUT3), transcript variant...
Homo sapiens fucosyltransferase 3 (Lewis blood group) (FUT3), transcript variant 1, mRNAgi|148277008|ref|NM_000149.3|Nucleotide
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See more...Assertion and evidence details
Last Updated: May 7, 2024