Annotation Detail
Information
- Associated Genes
- SCN5A
- Associated Variants
-
SCN5A p.Pro2006Ala (p.P2006A)
(
ENST00000333535.9,
ENST00000413689.6,
ENST00000414099.6,
ENST00000423572.7,
ENST00000449557.6,
ENST00000450102.6,
ENST00000455624.6 )
SCN5A p.Pro2006Ala (p.P2006A) ( ENST00000333535.9, ENST00000413689.6, ENST00000414099.6, ENST00000423572.7, ENST00000449557.6, ENST00000450102.6, ENST00000455624.6 ) - Associated Disease
- Brugada syndrome 1
- Source Database
- ClinVar
- Description
- NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) AND Brugada syndrome 1
- ClinVar Allele ID
- 78916
- ClinVar RefSeq Alternation Syntax
- NM_198056.3:c.6016C>G
- ClinVar RefSeq Alternation Syntax
- NM_001099404.2:c.6016C>G
- ClinVar RefSeq Alternation Syntax
- NM_001354701.2:c.5959C>G
- ClinVar RefSeq Alternation Syntax
- NM_000335.5:c.6013C>G
- ClinVar RefSeq Alternation Syntax
- NM_001099405.2:c.5962C>G
- ClinVar RefSeq Alternation Syntax
- NM_001160161.2:c.5854C>G
- ClinVar RefSeq Alternation Syntax
- NM_001160160.2:c.5917C>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2018-03-23
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000678920
- ClinVar Disease
- Brugada syndrome 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs