Annotation Detail
Information
- Associated Genes
- PEX2
- Associated Variants
-
PEX2 p.Arg119Ter (p.R119*)
(
ENST00000522527.5,
ENST00000357039.9,
ENST00000520103.5 )
PEX2 p.Arg119Ter (p.R119*) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 ) - Associated Disease
- Peroxisome biogenesis disorder
- Source Database
- ClinVar
- Description
- NM_000318.3(PEX2):c.355C>T (p.Arg119Ter) AND Peroxisome biogenesis disorder
- ClinVar Allele ID
- 28743
- ClinVar RefSeq Alternation Syntax
- NM_001079867.2:c.355C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172086.2:c.355C>T
- ClinVar RefSeq Alternation Syntax
- NM_000318.3:c.355C>T
- ClinVar RefSeq Alternation Syntax
- NM_001172087.2:c.355C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-03-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000589554
- ClinVar Disease
- Peroxisome biogenesis disorder
- Observed Origin Sample
- germline
Drugs