Mitochondrial DNA depletion syndrome 13
An Autosomal recessive mode(s) within the Metabolic disorders category
Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001278716.2(FBXL4):c.1703-2A>G | Single nucleotide variant | Chr6:98874443 | Likely pathogenic | Splice acceptor variant |
.Department of Pediatrics, GMC Srinagar, Government Medical College Srinagar |
|
| NM_001278716.2(FBXL4):c.1787del (p.Ser596fs) | Deletion | Chr6:98874357 | Likely pathogenic | Frameshift variant|non-coding transcript variant | rs2128374840 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar