An
Autosomal recessive
mode(s) within the
Metabolic disorders/Lysosomal storage disorders
category
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar
Likely pathogenic
2
Pathogenic
2
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000271.5(NPC1):c.3246T>A (p.Ser1082Arg) | Single nucleotide variant | Chr18:23535700 | Likely pathogenic | Missense variant | rs761952957 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000271.5(NPC1):c.1522G>A (p.Asp508Asn) | Single nucleotide variant | Chr18:23554789 | Uncertain significance | Missense variant | rs756587493 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000271.5(NPC1):c.1418C>G (p.Ser473Ter) | Single nucleotide variant | Chr18:23554893 | Pathogenic | Nonsense | rs2511276304 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| NM_000271.5(NPC1):c.1454_1459del (p.Leu485_Asn486del) | Deletion | Chr18:23554852 - 23554857 | Likely pathogenic | Inframe_deletion | rs2511275904 |
.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences |
| 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 |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar