Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Tyr268Ter (p.Y268*)
(
ENST00000528641.7,
ENST00000683856.1,
ENST00000682659.1,
ENST00000684657.1,
ENST00000684006.1,
ENST00000279146.8,
ENST00000683237.1 )
AIP p.Tyr268Ter (p.Y268*) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) AND not provided
- ClinVar Allele ID
- 19931
- ClinVar RefSeq Alternation Syntax
- NM_003977.4:c.804C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302959.2:c.627C>A
- ClinVar RefSeq Alternation Syntax
- NM_001302960.2:c.796C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-12-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003555922
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs