Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Gln52Arg (p.Q52R)
(
ENST00000339994.5,
ENST00000682764.1,
ENST00000682350.1,
ENST00000528731.1 )
KCNJ11 p.Gln52Arg (p.Q52R) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- permanent neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg) AND Permanent neonatal diabetes mellitus
- ClinVar Allele ID
- 34048
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.-16-91A>G
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.155A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.-17+81A>G
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.-16-91A>G
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000020348
- ClinVar Disease
- Permanent neonatal diabetes mellitus
- Observed Origin Sample
- unknown
Drugs