| 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 (#0001860) |
| Patient ID |
|
| Disease |
spEDS |
| Reference |
Ritelli et al., 2017 |
| Template |
DNA |
| Technique |
SEQ |
| Remarks |
The patient's parents and younger sister were healthy heterozygote carriers. Sanger sequencing of an RT-PCR on RNA from patient's whole blood showed multiple splice products resulting in different amounts of truncated p.Glu277*, p.Glu276_Glu277ins11*, and p.Glu277del. |
| Ethnic origin |
Moroccan |
| Variant data |
| Allele |
Paternal (inferred) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
06 |
| DNA change |
c.829G>T (View in UCSC Genome Browser, Ensembl) |
| dbSNP |
- |
| Type |
Substitution |
| Mutation Effect |
Nonsense |
| Protein |
p.Glu277* |
| RNA change |
- |
| Re-site |
- |
| Frequency |
- |
| DB-ID |
B4GALT7_00007 |
|
|
