Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Val1667Ile (p.V1667I)
(
ENST00000413689.6,
ENST00000450102.6,
ENST00000449557.6,
ENST00000423572.7,
ENST00000414099.6,
ENST00000455624.6,
ENST00000333535.9 )
SCN5A p.Val1667Ile (p.V1667I) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6, ENST00000423572.7 ) - Associated Disease
- long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) AND Long QT syndrome
- ClinVar Allele ID
- 78841
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.4945G>A
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.4837G>A
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.4900G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.4942G>A
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.4999G>A
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.4999G>A
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.4996G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000190217
- ClinVar Disease
- Long QT syndrome
- Observed Origin Sample
- germline
Drugs