| 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 (#0019126) |
| Phenotype |
cataract, congenital, autosomal dominant (CCad) |
| Phenotype additional |
posterior polar cataract (CTPP2) |
| Reference |
JdD |
| Remarks |
5-generation family, 16 affecteds |
| Geographic origin |
United Kingdom |
| Ethnic origin |
- |
| Gender |
- |
| Inheritance |
familial, autosomal dominant |
| Consanguinity |
- |
| Fam_Pat |
- |
| # reported |
16 |
| CK level |
- |
| Protein data |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Parent #2 |
| Reported pathogenicity |
No known pathogenicity |
| Concluded pathogenicity |
No known pathogenicity |
| Exon |
1_3 |
| Genet_ori |
germline (inherited) |
| DNA change |
c.= |
| Var_pub_as |
- |
| RNA change |
r.= |
| Protein change |
p.= |
| DB-ID |
CRYAB_00000 |
| Variant remarks |
no variant 2nd chromosome |
| Reference |
- |
| Template |
DNA |
| Technique |
SEQ |
| Frequency |
- |
| RE-site |
- |
|
|
