An
Autosomal recessive
mode(s) within the
Metabolic disorders
category
Pathogenic
2
Pathogenic/Likely pathogenic
1
Uncertain significance
2
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000187.4(HGD):c.887C>A (p.Ser296Tyr) | Single nucleotide variant | Chr3:120638574 | Uncertain significance | Missense variant |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India |
|
| NM_000187.4(HGD):c.518T>C (p.Leu173Pro) | Single nucleotide variant | Chr3:120647004 | Uncertain significance | Missense variant | rs2472701792 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000187.4(HGD):c.347T>C (p.Leu116Pro) | Single nucleotide variant | Chr3:120650861 | Pathogenic/Likely pathogenic | Missense variant | rs569846003 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000187.4(HGD):c.365C>T (p.Ala122Val) | Single nucleotide variant | Chr3:120650843 | Pathogenic | Missense variant | rs544956641 |
.Lifecell International Pvt. Ltd .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000187.4(HGD):c.175del (p.Ser59fs) | Deletion | Chr3:120674902 | Pathogenic | Frameshift variant | rs397515517 |
.Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Neuberg Centre For Genomic Medicine, NCGM |
Indian Institutes & Variant Submission Overview
Chromosome-wise Variant Distribution