Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 p.Ala344= (p.A344=)
(
ENST00000155840.12,
ENST00000335475.6,
ENST00000496887.7,
ENST00000646564.2,
ENST00000713725.1 )
KCNQ1 p.Ala344= (p.A344=) ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Beckwith-Wiedemann syndrome
- Source Database
- ClinVar
- Description
- NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) AND Beckwith-Wiedemann syndrome
- ClinVar Allele ID
- 18174
- ClinVar RefSeq Alternation Syntax
- NM_001406836.1:c.1032G>A
- ClinVar RefSeq Alternation Syntax
- NM_000218.3:c.1032G>A
- ClinVar RefSeq Alternation Syntax
- NM_181798.2:c.651G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406837.1:c.762G>A
- ClinVar RefSeq Alternation Syntax
- NM_001406838.1:c.588G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-05-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002247243
- ClinVar Disease
- Beckwith-Wiedemann syndrome
- Observed Origin Sample
- germline
Drugs