Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Glu174GlyfsTer47 (p.E174Gfs*47)
(
ENST00000684657.1,
ENST00000682659.1,
ENST00000683856.1,
ENST00000528641.7,
ENST00000683237.1,
ENST00000279146.8,
ENST00000684006.1 )
AIP p.Glu174GlyfsTer47 (p.E174Gfs*47) ( 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.521_525del (p.Glu174fs) AND Somatotroph adenoma
- ClinVar Allele ID
- 49609
- ClinVar RefSeq Alternation Syntax
- NM_001302959.2:c.344_348del
- ClinVar RefSeq Alternation Syntax
- NM_001302960.2:c.521_525del
- ClinVar RefSeq Alternation Syntax
- NM_003977.4:c.521_525del
- Clinical Significance Description
- not provided
- Clinical Significance Review Status
- no assertion provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000034086
- ClinVar Disease
- Somatotroph adenoma
- Observed Origin Sample
- unknown
Drugs