Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 c.1032+1G>A
(
ENST00000335475.6,
ENST00000155840.12,
ENST00000496887.7,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 c.1032+1G>A ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1032+1G>A AND not provided
- ClinVar Allele ID
- 67605
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.588+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.762+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1032+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.651+1G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1032+1G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-01-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000182161
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs