Annotation Detail
Information
- Associated Genes
- KCNJ11
- Associated Variants
-
KCNJ11 p.Val337Ile (p.V337I)
(
ENST00000339994.5,
ENST00000528731.1,
ENST00000682350.1,
ENST00000682764.1 )
KCNJ11 p.Val337Ile (p.V337I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 ) - Associated Disease
- permanent neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND Permanent neonatal diabetes mellitus
- ClinVar Allele ID
- 168863
- ClinVar RefSeq Alternation Syntax
- NM_001377296.1:c.748G>A
- ClinVar RefSeq Alternation Syntax
- NM_000525.4:c.1009G>A
- ClinVar RefSeq Alternation Syntax
- NM_001166290.2:c.748G>A
- ClinVar RefSeq Alternation Syntax
- NM_001377297.1:c.748G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2020-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001275131
- ClinVar Disease
- Permanent neonatal diabetes mellitus
- Observed Origin Sample
- germline
Drugs