An
Autosomal recessive
mode(s) within the
Neurodegenerative disorders
category
Pathogenic/Likely pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000049.4(ASPA):c.526G>A (p.Gly176Ser) | Single nucleotide variant | Chr17:3483592 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs2150748728 |
.Clinical Genetics Laboratory, Christian Medical College, Vellore |
| NM_000049.4(ASPA):c.503G>A (p.Arg168His) | Single nucleotide variant | Chr17:3483569 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs770706390 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) | Single nucleotide variant | Chr17:3483520 | Pathogenic/Likely pathogenic | Missense variant|intron variant | rs104894548 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution