Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 p.Asn72Ser (p.N72S)
(
ENST00000643260.1,
ENST00000684571.1,
ENST00000389817.8,
ENST00000302539.9,
ENST00000644772.1,
ENST00000646902.1,
ENST00000642271.1,
ENST00000683136.1,
ENST00000647015.1 )
ABCC8 p.Asn72Ser (p.N72S) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- Diabetes mellitus, permanent neonatal 3
- Source Database
- ClinVar
- Description
- NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) AND Diabetes mellitus, permanent neonatal 3
- ClinVar Allele ID
- 24146
- ClinVar RefSeq Alternation Syntax
- NM_001351297.2:c.215A>G
- ClinVar RefSeq Alternation Syntax
- NM_001287174.3:c.215A>G
- ClinVar RefSeq Alternation Syntax
- NM_000352.6:c.215A>G
- ClinVar RefSeq Alternation Syntax
- NM_001351295.2:c.215A>G
- ClinVar RefSeq Alternation Syntax
- NM_001351296.2:c.215A>G
- ClinVar RefSeq Alternation Syntax
- NR_147094.2:n.284A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-08-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001089459
- ClinVar Disease
- Diabetes mellitus, permanent neonatal 3
- Observed Origin Sample
- germline
- Pubmed
- 17668386
Drugs