Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 p.Arg1204Trp (p.R1204W)
(
ENST00000643260.1,
ENST00000389817.8,
ENST00000684571.1,
ENST00000302539.9,
ENST00000646902.1,
ENST00000644772.1,
ENST00000642271.1,
ENST00000683136.1,
ENST00000647015.1 )
ABCC8 p.Arg1204Trp (p.R1204W) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- Familial hyperinsulinism
- Source Database
- ClinVar
- Description
- NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) AND Familial hyperinsulinism
- ClinVar Allele ID
- 207846
- ClinVar RefSeq Alternation Syntax
- NM_001351297.2:c.3541C>T
- ClinVar RefSeq Alternation Syntax
- NR_147094.2:n.3693C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351295.2:c.3610C>T
- ClinVar RefSeq Alternation Syntax
- NM_001287174.3:c.3547C>T
- ClinVar RefSeq Alternation Syntax
- NM_000352.6:c.3544C>T
- ClinVar RefSeq Alternation Syntax
- NM_001351296.2:c.3544C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003987437
- ClinVar Disease
- Familial hyperinsulinism
- Observed Origin Sample
- germline
Drugs