Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Thr1620Met (p.T1620M)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Arg1232Trp (p.R1232W) ( ENST00000413689.6, ENST00000333535.9, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Thr1620Met (p.T1620M) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Arg1232Trp (p.R1232W) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Brugada syndrome 1
- Source Database
- ClinVar
- Description
- NM_198056.2(SCN5A):c.[3694C>T;4859C>T] AND Brugada syndrome 1
- ClinVar Allele ID
- 24410
- ClinVar Allele ID
- 38446
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.4802C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.3691C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.4697C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.4805C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.3694C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.3694C>T
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.3691C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.3691C>T
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.4859C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.3532C>T
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.4856C>T
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.3694C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.4859C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.4760C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2000-01-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009965
- ClinVar Disease
- Brugada syndrome 1
- Observed Origin Sample
- germline
- Pubmed
- 9521325
- Pubmed
- 10618304
Drugs