Annotation Detail
Information
- Associated Genes
- GNB3 CDCA3
- Associated Variants
-
GNB3 p.Ser275= (p.S275=)
(
ENST00000435982.6,
ENST00000229264.8,
ENST00000422785.7 )
GNB3 p.Ser275= (p.S275=) ( ENST00000229264.8, ENST00000435982.6, ENST00000422785.7 ) - Associated Disease
- congenital stationary night blindness 1H
- Source Database
- ClinVar
- Description
- NM_002075.4(GNB3):c.825C>T (p.Ser275=) AND Congenital stationary night blindness 1H
- ClinVar Allele ID
- 227813
- ClinVar RefSeq Alternation Syntax
- NM_002075.4:c.825C>T
- ClinVar RefSeq Alternation Syntax
- NM_001297571.2:c.822C>T
- ClinVar RefSeq Alternation Syntax
- NM_001297603.3:c.*1077G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001701797
- ClinVar Disease
- Congenital stationary night blindness 1H
- Observed Origin Sample
- germline
Drugs