Mucopolysaccharidosis, MPS-III-A
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Conflicting classifications of pathogenicity
1
Likely pathogenic
1
Pathogenic
1
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000199.5(SGSH):c.1A>C (p.Met1Leu) | Single nucleotide variant | Chr17:80220313 | Pathogenic | Missense variant|initiator_codon_variant|non-coding transcript variant | rs1250300189 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) | Single nucleotide variant | Chr17:80214291 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs529855742 |
.Center for Medical Genetics, GenVams Trust |
| NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) | Single nucleotide variant | Chr17:80210532 | Likely pathogenic | Missense variant|3 prime UTR variant|non-coding transcript variant | rs1064795109 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) | Single nucleotide variant | Chr17:80217184 | Conflicting classifications of pathogenicity | Missense variant|non-coding transcript variant | rs398123246 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
| NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) | Single nucleotide variant | Chr17:80210622 | Pathogenic/Likely pathogenic | Missense variant|3 prime UTR variant|non-coding transcript variant | rs104894639 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Lifecell International Pvt. Ltd |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution