Annotation Detail
Information
- Associated Genes
- GABRA2
- Associated Variants
-
GABRA2 p.Met10Thr (p.M10T)
(
ENST00000356504.5,
ENST00000381620.9,
ENST00000507069.5,
ENST00000507460.1,
ENST00000510861.5,
ENST00000514090.5,
ENST00000515082.5,
ENST00000540012.5 )
GABRA2 p.Met10Thr (p.M10T) ( ENST00000356504.5, ENST00000381620.9, ENST00000507069.5, ENST00000507460.1, ENST00000510861.5, ENST00000514090.5, ENST00000515082.5, ENST00000540012.5 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000807.4(GABRA2):c.29T>C (p.Met10Thr) AND not provided
- ClinVar Allele ID
- 1377390
- ClinVar RefSeq Alternation Syntax
- NM_000807.4:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377149.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377153.1:c.-69T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377145.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377146.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377150.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001286827.3:c.-69T>C
- ClinVar RefSeq Alternation Syntax
- NM_001114175.3:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377144.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377151.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377154.1:c.-69T>C
- ClinVar RefSeq Alternation Syntax
- NM_001330690.2:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377147.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377148.1:c.29T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377152.1:c.-69T>C
- ClinVar RefSeq Alternation Syntax
- NM_001377155.1:c.29T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2023-04-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001948038
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs