Annotation Detail
Information
- Associated Genes
- GEMIN4
- Associated Variants
-
GEMIN4 p.Arg1033Cys (p.R1033C)
(
ENST00000576778.1,
ENST00000319004.6 )
GEMIN4 p.Arg1033Cys (p.R1033C) ( ENST00000319004.6, ENST00000576778.1 ) - Associated Disease
- neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- Source Database
- ClinVar
- Description
- NM_015721.3(GEMIN4):c.3097C>T (p.Arg1033Cys) AND Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- ClinVar Allele ID
- 1173057
- ClinVar RefSeq Alternation Syntax
- NM_015721.3:c.3097C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001544038
- ClinVar Disease
- Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
- Observed Origin Sample
- germline
Drugs