Annotation Detail
Information
- Associated Genes
- PEX10
- Associated Variants
-
PEX10 c.836+9G>A
(
ENST00000507596.5,
ENST00000447513.7,
ENST00000288774.8 )
PEX10 c.836+9G>A ( ENST00000288774.8, ENST00000447513.7, ENST00000507596.5 ) - Associated Disease
- Peroxisome biogenesis disorder, complementation group 7
- Source Database
- ClinVar
- Description
- NM_002617.4(PEX10):c.776+9G>A AND Peroxisome biogenesis disorder, complementation group 7
- ClinVar Allele ID
- 774478
- ClinVar RefSeq Alternation Syntax
- NM_001374427.1:c.344+9G>A
- ClinVar RefSeq Alternation Syntax
- NM_153818.2:c.836+9G>A
- ClinVar RefSeq Alternation Syntax
- NM_002617.4:c.776+9G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374426.1:c.401+9G>A
- ClinVar RefSeq Alternation Syntax
- NM_001374425.1:c.833+9G>A
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2024-01-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000941540
- ClinVar Disease
- Peroxisome biogenesis disorder, complementation group 7
- Observed Origin Sample
- germline
Drugs