Annotation Detail
Information
- Associated Genes
- PEX2
- Associated Variants
-
PEX2 p.Glu55Lys (p.E55K)
(
ENST00000522527.5,
ENST00000357039.9,
ENST00000520103.5 )
PEX2 p.Glu55Lys (p.E55K) ( ENST00000357039.9, ENST00000520103.5, ENST00000522527.5 ) - Associated Disease
- Peroxisome biogenesis disorder
- Source Database
- ClinVar
- Description
- NM_000318.3(PEX2):c.163G>A (p.Glu55Lys) AND Peroxisome biogenesis disorder
- ClinVar Allele ID
- 28744
- ClinVar RefSeq Alternation Syntax
- NM_001172086.2:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_000318.3:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_001172087.2:c.163G>A
- ClinVar RefSeq Alternation Syntax
- NM_001079867.2:c.163G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2023-07-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003323360
- ClinVar Disease
- Peroxisome biogenesis disorder
- Observed Origin Sample
- germline
Drugs