Annotation Detail

Information
Associated Genes
AIP
Associated Variants
AIP p.Arg271Trp (p.R271W) ( ENST00000682659.1, ENST00000684657.1, ENST00000683856.1, ENST00000528641.7, ENST00000683237.1, ENST00000684006.1, ENST00000279146.8 )
AIP p.Arg271Trp (p.R271W) ( 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.811C>T (p.Arg271Trp) AND Somatotroph adenoma
ClinVar Allele ID
49632
ClinVar RefSeq Alternation Syntax
NM_003977.4:c.811C>T
ClinVar RefSeq Alternation Syntax
NM_001302959.2:c.634C>T
ClinVar RefSeq Alternation Syntax
NM_001302960.2:c.803C>T
Clinical Significance Description
not provided
Clinical Significance Review Status
no assertion provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000034109
ClinVar Disease
Somatotroph adenoma
Observed Origin Sample
unknown
Drugs