Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Arg50Gln (p.R50Q)
(
ENST00000339994.5,
ENST00000682350.1,
ENST00000682764.1,
ENST00000528731.1 )
KCNJ11 p.Arg50Gln (p.R50Q) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- Neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.149G>A (p.Arg50Gln) AND Neonatal diabetes mellitus
- ClinVar Allele ID
- 45094
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.-16-97G>A
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.149G>A
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.-16-97G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.-17+75G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030103
- ClinVar Disease
- Neonatal diabetes mellitus
- Observed Origin Sample
- germline
Drugs