| 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 (#0000453) |
| Patient ID |
P5 |
| Disease |
EDS VIA |
| Reference |
Giunta et al., 2005b |
| Template |
DNA |
| Technique |
PCR, SEQ |
| Remarks |
The paternal duplication variant was published by Heikkinen et al., 1997 (presumably as patient AB) whereas the maternal mutation remained undetectable at that time.
The maternal variant is incorrectly described as c.1253delC in Giunta et al., 2005b. The protein effect is also incorrect described in the same paper as p.Ile454IlefsX2. The paternal variant is incorrectly described as c.1067_1846dup in Giunta et al., 2005b. The actual variant details have been confirmed with the authors. |
| Ethnic origin |
Bosnian |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Pathogenic |
| Exon |
09i |
| DNA change |
c.975+975_1755+?dup (View in UCSC Genome Browser, Ensembl) |
| dbSNP |
- |
| Type |
Duplication |
| Mutation Effect |
Duplication |
| Protein |
p.Glu326_Lys585dup |
| RNA change |
- |
| Re-site |
+Eael, +SexAI |
| DB-ID |
PLOD1_00003 |
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