| 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 (#0020166) |
| Phenotype |
sialuria |
| Phenotype additional |
moderate developmental delay, hepatosplenomegaly, slightly coarse facial features, large tongue, macrocephaly, massive urinary excretion free sialic acid; 7y-mild intellectual impairment (attends regular school), fine-motor difficulty, growth 10th percentile, organomegaly persistent |
| Reference |
Wilcken 1987, JdD |
| Remarks |
- |
| Geographic origin |
Finland |
| Ethnic origin |
- |
| Gender |
F |
| Inheritance |
unknown |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Parent #1 |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
5 |
| DNA change |
c.889C>T (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
796C>T (R266W) |
| RNA change |
r.889c>u |
| Protein change |
p.Arg297Trp |
| DB-ID |
GNE_00001 |
| Variant remarks |
- |
| Genet_ori |
germline (inherited) |
| Reference |
Seppala, (OMIM 0001) |
| Template |
DNA, RNA |
| Technique |
RT-PCR, SEQ |
| Frequency |
- |
| RE-site |
- |
|
