Annotation Detail
Information
- Associated Genes
- GABRG2
- Associated Variants
-
GABRG2 c.-4delA
(
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 )
GABRG2 c.-4delA ( 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 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_198904.4(GABRG2):c.-4del AND not provided
- ClinVar Allele ID
- 298652
- ClinVar RefSeq Alternation Syntax
- NM_001375345.1:c.-3-67del
- ClinVar RefSeq Alternation Syntax
- NM_001375349.1:c.-410del
- ClinVar RefSeq Alternation Syntax
- NM_001375340.1:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_001375339.1:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_001375341.1:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_001375342.1:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_000816.3:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_001375343.1:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_198904.4:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_001375348.1:c.-362del
- ClinVar RefSeq Alternation Syntax
- NM_198903.2:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_001375344.1:c.-4del
- ClinVar RefSeq Alternation Syntax
- NM_001375347.1:c.20+355del
- ClinVar RefSeq Alternation Syntax
- NM_001375350.1:c.-362del
- ClinVar RefSeq Alternation Syntax
- NM_001375346.1:c.-3-67del
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2020-02-21
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001551998
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs