| 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 (#0013914) |
| Phenotype |
dysplasia, mandibuloacral, atypical |
| Phenotype additional |
early onset, progeroid |
| Reference |
Ahmad 2010, United States:Marshfield, WI |
| Remarks |
MAD4700.3; 2-generation family, affected brother 1 |
| Geographic origin |
United States |
| Ethnic origin |
- |
| Gender |
M |
| Inheritance |
familial, autosomal recessive |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Tom Winder |
| Variant data |
| Allele |
Paternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
6 |
| DNA change |
c.743C>T (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
r.(?) |
| Protein change |
p.(Pro248Leu) |
| DB-ID |
ZMPSTE24_00012 |
| Variant remarks |
- |
| Genet_ori |
germline (inherited) |
| Segregation |
yes |
| Reference |
Ahmad 2010, (OMIM 0005) |
| Template |
DNA |
| Technique |
SEQ |
| Frequency |
- |
| RE-site |
- |
|
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