An
Autosomal recessive
mode(s) within the
Metabolic disorders/Lysosomal storage disorders
category
Pathogenic
1
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter) | Single nucleotide variant | Chr11:6393376 | Pathogenic | Nonsense|non-coding transcript variant|intron variant | rs755160837 |
.Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) | Single nucleotide variant | Chr11:6393629 | Pathogenic/Likely pathogenic | Missense variant|non-coding transcript variant | rs1554935136 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
| NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys) | Single nucleotide variant | Chr11:6391753 | Pathogenic/Likely pathogenic | Missense variant|5 prime UTR variant|non-coding transcript variant | rs989639224 |
.Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution