NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu) AND Cataract 23
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 19, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001218742.6
Allele description [Variation Report for NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu)]
NM_001886.3(CRYBA4):c.464C>T (p.Pro155Leu)
Condition(s)
- Name:
- Cataract 23 (CTRCT23)
- Synonyms:
- Cataract, lamellar 2; CATARACT 23, LAMELLAR; Microphthalmia, isolated, with cataract 4; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012489; MedGen: C3808012; Orphanet: 91492; OMIM: 610425
-
Myositis, eosinophilic
Myositis, eosinophilicMedGen
-
C1299884[conceptid] (1)
MedGen
-
MIR1200 microRNA 1200 [Homo sapiens]
MIR1200 microRNA 1200 [Homo sapiens]Gene ID:100302113Gene
-
Gene Links for GEO Profiles (Select 129815385) (1)
Gene
-
PREDICTED: Homo sapiens SMG6 nonsense mediated mRNA decay factor (SMG6), transcr...
PREDICTED: Homo sapiens SMG6 nonsense mediated mRNA decay factor (SMG6), transcript variant X2, mRNAgi|2462554222|ref|XM_054315608.1|Nucleotide
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Last Updated: Feb 20, 2024