| 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 (#0000480) |
| Patient ID |
790 |
| Disease |
EDS VI |
| Reference |
Yeowell et al., 2000 |
| Template |
DNA, RNA |
| Technique |
PCR, RT-PCR, SEQ |
| Remarks |
The PLOD1 substitution variant is incorrectly described as 1557C>G in Yeowell et al., 2000. This is due to incorrect use of an alternative PLOD1 mRNA sequence: GenBank accession no. M98252. |
| Ethnic origin |
North American |
| Variant data |
| Allele |
Parent #1 |
| 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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