Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 p.Glu382Lys (p.E382K)
(
ENST00000647015.1,
ENST00000683136.1,
ENST00000642271.1,
ENST00000646902.1,
ENST00000644772.1,
ENST00000302539.9,
ENST00000389817.8,
ENST00000684571.1,
ENST00000643260.1 )
ABCC8 p.Glu382Lys (p.E382K) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- permanent neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) AND Permanent neonatal diabetes mellitus
- ClinVar Allele ID
- 24147
- ClinVar RefSeq Alternation Syntax
- NM_001287174.3:c.1144G>A
- ClinVar RefSeq Alternation Syntax
- NR_147094.2:n.1210G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351296.2:c.1141G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351297.2:c.1141G>A
- ClinVar RefSeq Alternation Syntax
- NM_000352.6:c.1144G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351295.2:c.1144G>A
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009678
- ClinVar Disease
- Permanent neonatal diabetes mellitus
- Observed Origin Sample
- unknown
Drugs