Annotation Detail
Information
- Associated Genes
- GABRB2
- Associated Variants
-
GABRB2 c.833-203G>C
(
ENST00000274547.7,
ENST00000353437.10,
ENST00000393959.6,
ENST00000517547.5,
ENST00000517901.5,
ENST00000520240.5,
ENST00000675303.1,
ENST00000675381.1,
ENST00000675773.1 )
GABRB2 c.833-203G>C ( ENST00000274547.7, ENST00000353437.10, ENST00000393959.6, ENST00000517547.5, ENST00000517901.5, ENST00000520240.5, ENST00000675303.1, ENST00000675381.1, ENST00000675773.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001371727.1(GABRB2):c.833-203G>C AND not provided
- ClinVar Allele ID
- 661083
- ClinVar RefSeq Alternation Syntax
- NM_021911.3:c.833-203G>C
- ClinVar RefSeq Alternation Syntax
- NM_000813.3:c.833-203G>C
- ClinVar RefSeq Alternation Syntax
- NM_001371727.1:c.833-203G>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-06-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000841710
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs