Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Leu270Val (p.L270V)
(
ENST00000339994.5,
ENST00000682350.1,
ENST00000682764.1,
ENST00000528731.1 )
KCNJ11 p.Leu270Val (p.L270V) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Hyperinsulinemic hypoglycemia, familial, 2
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Hyperinsulinemic hypoglycemia, familial, 2
- ClinVar Allele ID
- 168866
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.547C>G
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.808C>G
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.547C>G
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.547C>G
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2021-07-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000576834
- ClinVar Disease
- Hyperinsulinemic hypoglycemia, familial, 2
- Observed Origin Sample
- germline
Drugs