Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.His558Arg (p.H558R)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Thr512Ile (p.T512I) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.His558Arg (p.H558R) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 )
SCN5A p.Thr512Ile (p.T512I) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Progressive familial heart block, type 1A
- Source Database
- ClinVar
- Description
- NM_198056.2(SCN5A):c.[1535C>T;1673A>G] AND Progressive familial heart block, type 1A
- ClinVar Allele ID
- 38447
- ClinVar Allele ID
- 24437
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.1673A>G
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.1535C>T
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.1535C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.1673A>G
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.1535C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.1535C>T
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.1535C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.1535C>T
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.1535C>T
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.1673A>G
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.1673A>G
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.1673A>G
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.1673A>G
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.1673A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2008-04-15
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000010000
- ClinVar Disease
- Progressive familial heart block, type 1A
- Observed Origin Sample
- germline
- Pubmed
- 11997281
- Pubmed
- 12569159
- Pubmed
- 18378609
Drugs