Annotation Detail
Information
- Associated Genes
- SCN5A LOC110121269
- Associated Variants
-
SCN5A p.Cys982Arg (p.C982R)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Cys982Arg (p.C982R) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Primary familial dilated cardiomyopathy
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) AND Primary familial dilated cardiomyopathy
- ClinVar Allele ID
- 78664
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.2944T>C
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.2944T>C
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.2944T>C
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.2944T>C
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.2944T>C
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.2944T>C
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.2944T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000845398
- ClinVar Disease
- Primary familial dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs