Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Ile1836Thr (p.I1836T)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Ile1836Thr (p.I1836T) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- dilated cardiomyopathy 1E
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) AND Dilated cardiomyopathy 1E
- ClinVar Allele ID
- 48044
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.5453T>C
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.5507T>C
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.5450T>C
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.5345T>C
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.5408T>C
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.5507T>C
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.5504T>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-05-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000032640
- ClinVar Disease
- Dilated cardiomyopathy 1E
- Observed Origin Sample
- germline
- Pubmed
- 19412328
Drugs