Annotation Detail
Information
- Associated Genes
- ABCC8
- Associated Variants
-
ABCC8 p.Ser1207Tyr (p.S1207Y)
(
ENST00000643260.1,
ENST00000684571.1,
ENST00000389817.8,
ENST00000302539.9,
ENST00000644772.1,
ENST00000646902.1,
ENST00000642271.1,
ENST00000683136.1,
ENST00000647015.1 )
ABCC8 p.Ser1207Tyr (p.S1207Y) ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 ) - Associated Disease
- Transitory neonatal diabetes mellitus
- Source Database
- ClinVar
- Description
- NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) AND Transitory neonatal diabetes mellitus
- ClinVar Allele ID
- 24148
- ClinVar RefSeq Alternation Syntax
- NM_001351297.2:c.3551C>A
- ClinVar RefSeq Alternation Syntax
- NM_001351296.2:c.3554C>A
- ClinVar RefSeq Alternation Syntax
- NR_147094.2:n.3703C>A
- ClinVar RefSeq Alternation Syntax
- NM_001287174.3:c.3557C>A
- ClinVar RefSeq Alternation Syntax
- NM_001351295.2:c.3620C>A
- ClinVar RefSeq Alternation Syntax
- NM_000352.6:c.3554C>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002243635
- ClinVar Disease
- Transitory neonatal diabetes mellitus
- Observed Origin Sample
- somatic
Drugs