Annotation Detail

Information
Associated Genes
AIP LOC130006206
Associated Variants
AIP p.Lys58Asn (p.K58N) ( ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Lys58Asn (p.K58N) ( 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.174G>C (p.Lys58Asn) AND Hereditary cancer-predisposing syndrome
ClinVar Allele ID
49588
ClinVar RefSeq Alternation Syntax
NM_001302960.2:c.174G>C
ClinVar RefSeq Alternation Syntax
NM_003977.4:c.174G>C
ClinVar RefSeq Alternation Syntax
NM_001302959.2:c.-4G>C
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2022-02-28
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001012978
ClinVar Disease
Hereditary cancer-predisposing syndrome
Observed Origin Sample
germline
Drugs