Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Glu1784Lys (p.E1784K)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Glu1784Lys (p.E1784K) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- long QT syndrome 3
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) AND Long QT syndrome 3
- ClinVar Allele ID
- 24416
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.5251G>A
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.5188G>A
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.5347G>A
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.5350G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.5293G>A
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.5350G>A
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.5296G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2020-05-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009972
- ClinVar Disease
- Long QT syndrome 3
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 10377081
- Pubmed
- 18451998
Drugs