Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Arg1623= (p.R1623=)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Arg1623= (p.R1623=) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Cardiac arrhythmia
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.4864C>A (p.Arg1622=) AND Cardiac arrhythmia
- ClinVar Allele ID
- 616899
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.4813C>A
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.4768C>A
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.4867C>A
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.4864C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.4810C>A
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.4867C>A
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.4705C>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-08-08
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001841922
- ClinVar Disease
- Cardiac arrhythmia
- Observed Origin Sample
- germline
Drugs