Autosomal recessive spinocerebellar ataxia 17
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Likely pathogenic
1
Pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_018294.6(CWF19L1):c.1375-2A>G | Single nucleotide variant | Chr10:100235766 | Pathogenic | Splice acceptor variant | rs2493141408 |
.Institute of Bioinformatics |
| NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser) | Single nucleotide variant | Chr10:100256314 | Likely pathogenic | Missense variant|intron variant | rs1236392229 |
.Institute of Bioinformatics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution