Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Thr1779Met (p.T1779M)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Thr1779Met (p.T1779M) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Congenital long QT syndrome
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) AND Congenital long QT syndrome
- ClinVar Allele ID
- 78877
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.5237C>T
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.5333C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.5336C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.5279C>T
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.5336C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.5282C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.5174C>T
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000058771
- ClinVar Disease
- Congenital long QT syndrome
- Observed Origin Sample
- germline
Drugs