| About this overview [Show] |
| This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant. |
| Patient data (#0016680) |
| Phenotype |
GKD |
| Phenotype additional |
never experienced clinical episode of hypoglycaemia, normal development; glycerol plasma 5.1mM, urine 24mM, fibroblast 0.3% glycerol incorporation |
| Reference |
JdD |
| Remarks |
half brother of 09719371-3.II.3, carrier mother |
| Geographic origin |
ID |
| Ethnic origin |
- |
| Gender |
M |
| Inheritance |
unknown |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Paternal (inferred) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
1_21 |
| DNA change |
c.0 |
| Var_pub_as |
- |
| RNA change |
r.0 |
| Protein change |
p.0 |
| DB-ID |
GK_00000 |
| Variant remarks |
no paternal X-chromosome |
| Genet_ori |
germline (inherited) |
| Reference |
- |
| Template |
DNA |
| Technique |
? |
| Frequency |
- |
| RE-site |
- |
|
