Individual #00444916

ID_report Fam33PatII2
Reference PubMed: Ma 2016
Remarks 3-generation family, 5 affected (F, 4M)
Gender F
Consanguinity -
Country Australia
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 5
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
Date created 2023-12-28 19:27:56 +01:00 (CET)
Date last edited N/A


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     
0000334166 see paper; ..., bilateral lens opacities with 'frosted glass' appearance; son 18m-cataracts, 6y-lensectomies; father and 2 uncles with cataracts. cataract CTRCT16 Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000446485 DNA SEQ;SEQ-NG - gene panel - 2 Johan den Dunnen



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
11 Paternal (confirmed) +?/. - likely pathogenic (dominant) g.111781055C>A g.111910331C>A - - CRYAB_000068 - PubMed: Ma 2016 - - Germline - - - - - Johan den Dunnen CRYAB - - - - - NM_001885.1:c.320G>T - r.(?) p.(Arg107Leu) - - - - - - - - - - - - - -
22 Maternal (inferred) -/. - benign g.27019197G>C g.26623233G>C - - CRYBA4_000012 - PubMed: Ma 2016 - rs142090709 Germline - - - - - Johan den Dunnen CRYBA4 - - - - - NM_001886.2:c.40-1G>C - r.spl p.? - - - - - - - - - - - - - -
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