Annotation Detail
Information
- Associated Genes
- AIP
- Associated Variants
-
AIP p.Phe269= (p.F269=)
(
ENST00000682659.1,
ENST00000684657.1,
ENST00000528641.7,
ENST00000683856.1,
ENST00000683237.1,
ENST00000684006.1,
ENST00000279146.8 )
AIP p.Phe269= (p.F269=) ( ENST00000279146.8, ENST00000528641.7, ENST00000682659.1, ENST00000683237.1, ENST00000683856.1, ENST00000684006.1, ENST00000684657.1 ) - Associated Disease
- AIP-related disorder
- Source Database
- ClinVar
- Description
- NM_003977.4(AIP):c.807C>T (p.Phe269=) AND AIP-related disorder
- ClinVar Allele ID
- 49631
- ClinVar RefSeq Alternation Syntax
- NM_003977.4:c.807C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302959.2:c.630C>T
- ClinVar RefSeq Alternation Syntax
- NM_001302960.2:c.799C>T
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-08-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003952391
- ClinVar Disease
- AIP-related disorder
- Observed Origin Sample
- germline
Drugs