Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Arg1623Gln (p.R1623Q)
(
ENST00000423572.7,
ENST00000413689.6,
ENST00000333535.9,
ENST00000414099.6,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Arg1623Gln (p.R1623Q) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Long QT syndrome 3/6, digenic
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) AND Long QT syndrome 3/6, digenic
- ClinVar Allele ID
- 24415
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.4814G>A
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.4706G>A
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.4769G>A
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.4811G>A
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.4868G>A
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.4868G>A
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.4865G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2006-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009971
- ClinVar Disease
- Long QT syndrome 3/6, digenic
- Observed Origin Sample
- germline
- Pubmed
- 16922724
- Pubmed
- 9506831
- Pubmed
- 15184283
- Pubmed
- 10772658
Drugs