Annotation Detail

Information
Associated Genes
AIP
Associated Variants
AIP p.Gln285LeufsTer17 (p.Q285Lfs*17) ( ENST00000528641.7, ENST00000683856.1, ENST00000684657.1, ENST00000682659.1, ENST00000279146.8, ENST00000684006.1, ENST00000683237.1 )
AIP p.Gln285LeufsTer17 (p.Q285Lfs*17) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 )
Associated Disease
Somatotroph adenoma
Source Database
ClinVar
Description
NM_003977.4(AIP):c.854_857del (p.Gln285fs) AND Somatotroph adenoma
ClinVar Allele ID
49635
ClinVar RefSeq Alternation Syntax
NM_001302960.2:c.846_849del
ClinVar RefSeq Alternation Syntax
NM_001302959.2:c.677_680del
ClinVar RefSeq Alternation Syntax
NM_003977.4:c.854_857del
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000034112
ClinVar Disease
Somatotroph adenoma
Observed Origin Sample
unknown
Drugs