Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Asp1595His (p.D1595H)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Asp1595His (p.D1595H) ( 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.4780G>C (p.Asp1594His) AND Primary dilated cardiomyopathy
- ClinVar Allele ID
- 24445
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.4783G>C
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.4729G>C
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.4714+66G>C
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.4726G>C
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.4621G>C
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.4783G>C
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.4780G>C
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000058706
- ClinVar Disease
- Primary dilated cardiomyopathy
- Observed Origin Sample
- germline
Drugs