Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Cys238Tyr (p.C238Y)
(
ENST00000684657.1,
ENST00000682659.1,
ENST00000683856.1,
ENST00000528641.7,
ENST00000683237.1,
ENST00000279146.8,
ENST00000684006.1 )
AIP p.Cys238Tyr (p.C238Y) ( 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.713G>A (p.Cys238Tyr) AND not provided
- ClinVar Allele ID
- 49619
- ClinVar RefSeq Alternation Syntax
- NM_003977.4:c.713G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302959.2:c.536G>A
- ClinVar RefSeq Alternation Syntax
- NM_001302960.2:c.713G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-12-14
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001379496
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs