Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ser566Phe (p.S566F)
(
ENST00000155840.12,
ENST00000496887.7,
ENST00000335475.6,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Ser566Phe (p.S566F) ( ENST00000713725.1, ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) AND not specified
- ClinVar Allele ID
- 67674
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.1316C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.1427C>T
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1697C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1601C>T
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.1157C>T
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2016-04-18
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000678814
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs