Annotation Detail
Information
- Associated Genes
- SCN5A LOC110121269
- Associated Variants
-
SCN5A p.Ser1103Tyr (p.S1103Y)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Ser1103Tyr (p.S1103Y) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Primary dilated cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) AND Primary dilated cardiomyopathy
- ClinVar Allele ID
- 24432
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.3305C>A
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.3308C>A
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.3305C>A
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.3308C>A
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.3308C>A
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.3305C>A
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.3228+1515C>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-09-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003125829
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs