| 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 (#0013989) |
| Phenotype |
dermopathy, restrictive (RD) |
| Phenotype additional |
born 32w; small eyes/nose, low set ears, open mouth; dolicocephalic head, open sutures, wide open anterior fontanelle; taut skin, parched and peeling, shallow respiration; joints/limbs stiff, movement restriction; chest X-ray dysplastic clavicles |
| Reference |
India:Lucknow |
| Remarks |
1 of 3 affecteds Fam1 |
| Geographic origin |
India |
| Ethnic origin |
South Indian |
| Gender |
F |
| Inheritance |
isolated (sporadic) |
| Consanguinity |
no |
| Fam_Pat |
- |
| # reported |
1 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Parag Tamhankar |
| Variant data |
| Allele |
Paternal (inferred) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
6 |
| DNA change |
c.691G>T (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
r.(?) |
| Protein change |
p.(Glu231*) |
| DB-ID |
ZMPSTE24_00014 |
| Variant remarks |
- |
| Genet_ori |
germline (inherited) |
| Segregation |
- |
| Reference |
Jagadeesh 2009 |
| Template |
DNA |
| Technique |
SEQ |
| Frequency |
- |
| RE-site |
- |
|
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