An
Autosomal recessive
mode(s) within the
Multisystemic disorders
category
Likely pathogenic
1
Pathogenic
1
Pathogenic/Likely pathogenic
1
Uncertain significance
1
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_001261826.3(AP3D1):c.3134C>T (p.Ser1045Phe) | Single nucleotide variant | Chr19:2110748 | Uncertain significance | Missense variant | rs768412125 |
.Prabudh Goel Research Team, All India Institute Medical Sciences, New Delhi |
| NM_000195.5(HPS1):c.1657C>T (p.Gln553Ter) | Single nucleotide variant | Chr10:98422455 | Pathogenic/Likely pathogenic | Nonsense | rs1591031929 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000195.5(HPS1):c.507+2T>G | Single nucleotide variant | Chr10:98433981 | Likely pathogenic | 5 prime UTR variant|synonymous variant|missense variant|splice donor variant | rs1591109881 |
.Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology |
| NM_000195.5(HPS1):c.972del (p.Met325fs) | Deletion | Chr10:98427230 | Pathogenic | Frameshift variant|5 prime UTR variant | rs281865082 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution