An
Autosomal recessive
mode(s) within the
Metabolic disorders/Lysosomal storage disorders
category
Pathogenic
3
Pathogenic/Likely pathogenic
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000203.5(IDUA):c.784del (p.His262fs) | Deletion | Chr4:1001872 | Pathogenic | Frameshift variant|non-coding transcript variant | rs757928590 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) | Single nucleotide variant | Chr4:987236 | Pathogenic | Missense variant|non-coding transcript variant|intron variant | rs794726877 | |
| NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) | Single nucleotide variant | Chr4:1003102 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs121965027 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000203.5(IDUA):c.1A>G (p.Met1Val) | Single nucleotide variant | Chr4:987085 | Pathogenic | Missense variant|initiator_codon_variant|non-coding transcript variant|intron variant | rs1553914737 |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution