Fructose-biphosphatase deficiency
An Autosomal recessive mode(s) within the Metabolic disorders category
Likely pathogenic
2
Pathogenic/Likely pathogenic
3
| Variant name | Variant type | GRCH38 location | Germline classification | Molecular consequence | dbSNP_ID | Submitter |
|---|---|---|---|---|---|---|
| NM_000507.4(FBP1):c.778G>A (p.Gly260Arg) | Single nucleotide variant | Chr9:94605504 | Pathogenic/Likely pathogenic | Missense variant | rs780803192 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Lifecell International Pvt. Ltd |
| NM_000507.4(FBP1):c.349T>C (p.Cys117Arg) | Single nucleotide variant | Chr9:94617845 | Likely pathogenic | Missense variant | rs1563983269 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000507.4(FBP1):c.611_614del (p.Lys204fs) | Deletion | Chr9:94606906 - 94606909 | Pathogenic/Likely pathogenic | Frameshift variant | rs761470205 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Neuberg Centre For Genomic Medicine, NCGM |
| NM_000507.4(FBP1):c.426+1G>T | Single nucleotide variant | Chr9:94617767 | Likely pathogenic | Splice donor variant | rs1563983184 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital |
| NM_000507.4(FBP1):c.841G>A (p.Glu281Lys) | Single nucleotide variant | Chr9:94603557 | Pathogenic/Likely pathogenic | Missense variant | rs566453434 |
.Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital .Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India .Lifecell International Pvt. Ltd |
Graph displaying all Indian institutes, the rare genetic disorders they studied, and the variants submitted to ClinVar