Annotation Detail
Information
- Associated Genes
- PNPLA3
- Associated Variants
-
PNPLA3 p.Ile148Met (p.I148M)
(
ENST00000216180.8,
ENST00000423180.2 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) AND not provided
- ClinVar Allele ID
- 352627
- ClinVar RefSeq Alternation Syntax
- NM_025225.3:c.444C>G
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-04-01
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001539494
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs