| 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 (#0013552) |
| Disease |
cataract, congenital, cerulean type (CCA2) |
| Phenotype additional |
Cerulean blue |
| Remarks |
homozygous case Fam ADCC-1 |
| Reference |
JdD |
| Inheritance |
familial, autosomal dominant, familial, autosomal dominant |
| Consanguinity |
- |
| Families/Patients |
- |
| # Reported |
1 |
| Geographic origin |
United States |
| Ethnic origin |
- |
| Gender |
- |
| Age_onset |
- |
| Phenotype_onset |
- |
| Submitter |
Johan den Dunnen |
| Variant data |
| Allele |
Maternal (confirmed) |
| Reported pathogenicity |
Pathogenic |
| Concluded pathogenicity |
Unknown |
| Exon |
6 |
| DNA change |
c.463C>T (View in UCSC Genome Browser, Ensembl) |
| Var_pub_as |
- |
| RNA change |
r.(?) |
| Protein |
p.(Gln155*) |
| DB-ID |
CRYBB2_00002 |
| Variant remarks |
not in 62 control chromosomes |
| Origin |
germline (inherited) |
| Reference |
Litt 1997, (OMIM 0001) |
| Detection/Template |
DNA |
| Detection/Technique |
SEQ |
| Frequency |
- |
| RE-site |
BfaI+ |
|
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