Progressive sclerosing poliodystrophy
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Likely pathogenic
1
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_002693.3(POLG):c.368T>G (p.Val123Gly) | Single nucleotide variant | Chr15:89333387 | Likely pathogenic | Missense variant | rs2509275684 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_002693.3(POLG):c.911T>G (p.Leu304Arg) | Single nucleotide variant | Chr15:89329055 | Pathogenic/Likely pathogenic | Missense variant | rs121918044 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution