Annotation Detail
Information
- Associated Genes
- FBXL4
- Associated Variants
-
FBXL4 p.Arg22Ter (p.R22*)
(
ENST00000229971.2,
ENST00000369244.7 )
FBXL4 p.Arg22Ter (p.R22*) ( ENST00000229971.2, ENST00000369244.7 ) - Associated Disease
- mitochondrial DNA depletion syndrome 13
- Source Database
- ClinVar
- Description
- NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) AND Mitochondrial DNA depletion syndrome 13
- ClinVar Allele ID
- 205749
- ClinVar RefSeq Alternation Syntax
- NM_001278716.2:c.64C>T
- ClinVar RefSeq Alternation Syntax
- NR_103836.2:n.395C>T
- ClinVar RefSeq Alternation Syntax
- NR_103837.2:n.395C>T
- ClinVar RefSeq Alternation Syntax
- NM_012160.5:c.64C>T
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2022-03-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000191084
- ClinVar Disease
- Mitochondrial DNA depletion syndrome 13
- Observed Origin Sample
- germline
- Observed Origin Sample
- inherited
- Observed Origin Sample
- maternal
- Observed Origin Sample
- unknown
Drugs