Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Ile182SerfsTer14 (p.I182Sfs*14)
(
ENST00000683237.1,
ENST00000279146.8,
ENST00000684006.1,
ENST00000684657.1,
ENST00000682659.1,
ENST00000683856.1,
ENST00000528641.7 )
AIP p.Ile182SerfsTer14 (p.I182Sfs*14) ( 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.543del (p.Ile182fs) AND Somatotroph adenoma
- ClinVar Allele ID
- 19930
- ClinVar RefSeq Alternation Syntax
- NM_001302960.2:c.543del
- ClinVar RefSeq Alternation Syntax
- NM_001302959.2:c.366del
- ClinVar RefSeq Alternation Syntax
- NM_003977.4:c.543del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2007-03-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000005169
- ClinVar Disease
- Somatotroph adenoma
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 17360484
Drugs