Annotation Detail
Information
- Associated Genes
- GABRG2
- Associated Variants
-
GABRG2 p.Asn196= (p.N196=)
(
ENST00000361925.9,
ENST00000414552.6,
ENST00000638552.1,
ENST00000638660.1,
ENST00000638772.1,
ENST00000639046.1,
ENST00000639111.2,
ENST00000639213.2,
ENST00000639384.1,
ENST00000639683.1,
ENST00000639975.1,
ENST00000640574.1,
ENST00000640985.1,
ENST00000641017.1 )
GABRG2 p.Asn196= (p.N196=) ( ENST00000361925.9, ENST00000414552.6, ENST00000638552.1, ENST00000638660.1, ENST00000638772.1, ENST00000639046.1, ENST00000639111.2, ENST00000639213.2, ENST00000639384.1, ENST00000639683.1, ENST00000639975.1, ENST00000640574.1, ENST00000640985.1, ENST00000641017.1 ) - Associated Disease
- Epilepsy, childhood absence 2 Febrile seizures, familial, 8
- Source Database
- ClinVar
- Description
- NM_198904.4(GABRG2):c.588C>T (p.Asn196=) AND multiple conditions
- ClinVar Allele ID
- 99341
- ClinVar RefSeq Alternation Syntax
- NM_001375343.1:c.588C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375339.1:c.579C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375341.1:c.588C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375346.1:c.522C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375347.1:c.501C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375348.1:c.168C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375349.1:c.303C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375350.1:c.168C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375345.1:c.522C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375342.1:c.588C>T
- ClinVar RefSeq Alternation Syntax
- NM_198903.2:c.588C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375340.1:c.588C>T
- ClinVar RefSeq Alternation Syntax
- NM_198904.4:c.588C>T
- ClinVar RefSeq Alternation Syntax
- NM_001375344.1:c.588C>T
- ClinVar RefSeq Alternation Syntax
- NM_000816.3:c.588C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000860270
- ClinVar Disease
- Epilepsy, childhood absence 2
- ClinVar Disease
- Febrile seizures, familial, 8
- Observed Origin Sample
- germline
Drugs