Annotation Detail

Information
Associated Genes
AIP
Associated Variants
AIP p.Glu197= (p.E197=) ( ENST00000683856.1, ENST00000528641.7, ENST00000682659.1, ENST00000684657.1, ENST00000684006.1, ENST00000279146.8, ENST00000683237.1 )
AIP p.Glu197= (p.E197=) ( 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.591G>A (p.Glu197=) AND not provided
ClinVar Allele ID
49612
ClinVar RefSeq Alternation Syntax
NM_001302960.2:c.591G>A
ClinVar RefSeq Alternation Syntax
NM_003977.4:c.591G>A
ClinVar RefSeq Alternation Syntax
NM_001302959.2:c.414G>A
Clinical Significance Description
Benign
Clinical Significance Last Update
2024-01-19
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001065292
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs