Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Phe2004Val (p.F2004V)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Phe2004Val (p.F2004V) ( 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.6007T>G (p.Phe2003Val) AND Cardiac arrhythmia
- ClinVar Allele ID
- 78914
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.5956T>G
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.5848T>G
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.6007T>G
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.6010T>G
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.5911T>G
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.5953T>G
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.6010T>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2024-02-05
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001842402
- ClinVar Disease
- Cardiac arrhythmia
- Observed Origin Sample
- germline
Drugs