Annotation Detail
Information
- Associated Genes
- GABRA1
- Associated Variants
-
GABRA1 p.Arg301Lys (p.R301K)
(
ENST00000023897.10,
ENST00000393943.10,
ENST00000428797.7,
ENST00000437025.6,
ENST00000635880.1,
ENST00000636573.1,
ENST00000637827.1,
ENST00000638112.1,
ENST00000638159.1 )
GABRA1 p.Arg301Lys (p.R301K) ( ENST00000023897.10, ENST00000393943.10, ENST00000428797.7, ENST00000437025.6, ENST00000635880.1, ENST00000636573.1, ENST00000637827.1, ENST00000638112.1, ENST00000638159.1 ) - Associated Disease
- Developmental and epileptic encephalopathy, 19
- Source Database
- ClinVar
- Description
- NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys) AND Developmental and epileptic encephalopathy, 19
- ClinVar Allele ID
- 214535
- ClinVar RefSeq Alternation Syntax
- NM_001127648.2:c.902G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127643.2:c.902G>A
- ClinVar RefSeq Alternation Syntax
- NM_000806.5:c.902G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127645.2:c.902G>A
- ClinVar RefSeq Alternation Syntax
- NM_001127644.2:c.902G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-08-12
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000201943
- ClinVar Disease
- Developmental and epileptic encephalopathy, 19
- Observed Origin Sample
- de novo
Drugs