Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Ser1710Leu (p.S1710L)
(
ENST00000423572.7,
ENST00000333535.9,
ENST00000450102.6,
ENST00000449557.6,
ENST00000414099.6,
ENST00000455624.6,
ENST00000413689.6 )
SCN5A p.Ser1710Leu (p.S1710L) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- long QT syndrome 3 Brugada syndrome 1
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) AND multiple conditions
- ClinVar Allele ID
- 24422
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.5129C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.5072C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.4967C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.5075C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.5030C>T
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.5129C>T
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.5126C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-09-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV004554591
- ClinVar Disease
- Long QT syndrome 3
- ClinVar Disease
- Brugada syndrome 1
- Observed Origin Sample
- inherited
Drugs