| 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 (#0000484) |
| Patient ID |
CRL 1195 |
| Disease |
EDS VIA |
| Reference |
Pousi et al., 1994 |
| Template |
DNA, RNA |
| Technique |
PCR, RT-PCR, SEQ, Southern |
| Remarks |
This patient was originally analyzed and clinically described by Sussman et al., 1974. This patient also has an affected brother, described as Case 2 in Sussman et al., 1974. The patient is also mentioned subsequently by Heikkinen et al., 1997 clarifying the ethnic origin. |
| Ethnic origin |
Caucasian (American) |
| Variant data |
| Allele |
Maternal (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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