| 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 (#0000494) |
| Patient ID |
GM01790 |
| Disease |
EDS VI |
| Reference |
Hautala et al., 1993 |
| Template |
DNA, RNA |
| Technique |
RT-PCR, SEQ, Southern |
| Remarks |
The sister of the patient also harbours the same variant and she is described as GM01791 in Hautala et al., 1993. The two siblings are also clinically reported in Pinnell et al., 1972 and Krane et al., 1972. The father of the patients is of English-Irish ancestry and the mother is a mixture of Cherokee Indian, Welsh and Dutch. DNA from neither parent is available for study. In Hautala et al., 1993, the nucleotide position of the variant is incorrectly described as 1176 to 1955. The patient is also mentioned subsequently by Heikkinen et al., 1997 giving the ethnic origin. |
| Ethnic origin |
American |
| Variant data |
| Allele |
Maternal (inferred) |
| 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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