Annotation Detail
Information
- Associated Genes
- GABRB2
- Associated Variants
-
GABRB2 p.Ala436= (p.A436=)
(
ENST00000274547.7,
ENST00000353437.10,
ENST00000393959.6,
ENST00000517547.5,
ENST00000517901.5,
ENST00000520240.5,
ENST00000675303.1,
ENST00000675381.1,
ENST00000675773.1 )
GABRB2 p.Ala436= (p.A436=) ( ENST00000274547.7, ENST00000353437.10, ENST00000393959.6, ENST00000517547.5, ENST00000517901.5, ENST00000520240.5, ENST00000675303.1, ENST00000675381.1, ENST00000675773.1 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=) AND not specified
- ClinVar Allele ID
- 368296
- ClinVar RefSeq Alternation Syntax
- NM_021911.3:c.1308C>T
- ClinVar RefSeq Alternation Syntax
- NM_001371727.1:c.1308C>T
- ClinVar RefSeq Alternation Syntax
- NM_000813.3:c.1194C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-06-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000429656
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs