An
Autosomal recessive
mode(s) within the
Neurodegenerative disorders
category
Likely pathogenic
1
Pathogenic
2
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_033305.3(VPS13A):c.495+4_495+7del | Deletion | Chr9:77209533 - 77209536 | Uncertain significance | Splice donor variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg) | Single nucleotide variant | Chr9:77403309 | Likely pathogenic | rs2538311239 |
.Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education |
|
| NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter) | Single nucleotide variant | Chr9:77317660 | Pathogenic | Nonsense | rs1829478568 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_033305.3(VPS13A):c.555+1G>A | Single nucleotide variant | Chr9:77210676 | Pathogenic/Likely pathogenic | Splice donor variant | rs1590003601 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_033305.3(VPS13A):c.799C>T (p.Arg267Ter) | Single nucleotide variant | Chr9:77219998 | Pathogenic | Nonsense | rs771004767 |
.Department of Cell and Molecular Biology, Manipal School of Life Sciences, Manipal Academy of Higher Education |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution