Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Val195Ala (p.V195A)
(
ENST00000683237.1,
ENST00000279146.8,
ENST00000684006.1,
ENST00000684657.1,
ENST00000682659.1,
ENST00000528641.7,
ENST00000683856.1 )
AIP p.Val195Ala (p.V195A) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 ) - Associated Disease
- Hereditary cancer-predisposing syndrome
- Source Database
- ClinVar
- Description
- NM_003977.4(AIP):c.584T>C (p.Val195Ala) AND Hereditary cancer-predisposing syndrome
- ClinVar Allele ID
- 49611
- ClinVar RefSeq Alternation Syntax
- NM_003977.4:c.584T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302960.2:c.584T>C
- ClinVar RefSeq Alternation Syntax
- NM_001302959.2:c.407T>C
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2022-09-26
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001024601
- ClinVar Disease
- Hereditary cancer-predisposing syndrome
- Observed Origin Sample
- germline
Drugs