Autosomal recessive juvenile Parkinson disease 2
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs) | Insertion | Chr7:131556270 - 131556271 | Likely pathogenic | Frameshift variant | rs1554391082 |
.Prof. Thelma's Laboratory, Department of Genetics, University of Delhi South Campus |
| NM_004562.3(PRKN):c.1301T>C (p.Met434Thr) | Single nucleotide variant | Chr6:161350196 | Likely pathogenic | Missense variant | rs1582953433 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution