Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 p.Arg1204Gln (p.R1204Q)
(
ENST00000684571.1,
ENST00000389817.8,
ENST00000643260.1,
ENST00000644772.1,
ENST00000646902.1,
ENST00000302539.9,
ENST00000642271.1,
ENST00000647015.1,
ENST00000683136.1 )
ABCC8 p.Arg1204Gln (p.R1204Q) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) AND not provided
- ClinVar Allele ID
- 44276
- ClinVar RefSeq Alternation Syntax
- NM_001351297.2:c.3542G>A
- ClinVar RefSeq Alternation Syntax
- NR_147094.2:n.3694G>A
- ClinVar RefSeq Alternation Syntax
- NM_001287174.3:c.3548G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351295.2:c.3611G>A
- ClinVar RefSeq Alternation Syntax
- NM_000352.6:c.3545G>A
- ClinVar RefSeq Alternation Syntax
- NM_001351296.2:c.3545G>A
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2024-01-25
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001388602
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs