An
Autosomal recessive
mode(s) within the
Metabolic disorders/Lysosomal storage disorders
category
Pathogenic
2
Pathogenic/Likely pathogenic
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_004937.3(CTNS):c.422C>T (p.Ser141Phe) | Single nucleotide variant | Chr17:3655313 | Pathogenic/Likely pathogenic | Missense variant|5 prime UTR variant | rs1436441738 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology .Neuberg Centre For Genomic Medicine, NCGM |
| NM_004937.3(CTNS):c.971-12G>A | Single nucleotide variant | Chr17:3660224 | Pathogenic | Intron variant | rs375952052 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
| NM_004937.3(CTNS):c.18_21del (p.Thr7fs) | Deletion | Chr17:3640222 - 3640225 | Pathogenic | Frameshift variant|5 prime UTR variant|intron variant | rs786204501 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi .Neuberg Centre For Genomic Medicine, NCGM |
| NM_004937.3(CTNS):c.559_561+24del | Deletion | Chr17:3656573 - 3656599 | Pathogenic/Likely pathogenic | Splice donor variant | rs113994211 |
.Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution