Individual #00033867

ID_report -
Reference -
Remarks 7-generation family, 77 affecteds
Gender -
Consanguinity -
Country Mongolia
Population Asian, central; white
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 77
Diseases CTRCT
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

cataract (CTRCT) (CTRCT)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000027265 congenital; nonnuclear polymorphic congenital cataract - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033935 DNA SEQ - - CRYGD 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
2 Parent #1 +/. - pathogenic g.208989018G>A g.208124294G>A - - CRYGD_000003 mapped by linkage; not in 512 control chromosomes PubMed: Plotnikova 2007, OMIM:var0007 - rs28931605 Germline - - - 0 - Johan den Dunnen CRYGD - - - - - 2 NM_006891.3:c.70C>T - r.(?) p.(Pro24Ser) - - - - - - - - - - - - - - - - - - - -
Legend   How to query