Individual #00033982

ID_report -
Reference -
Remarks affected father, dauther and son
Gender -
Consanguinity -
Country Brazil
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 3
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     
0000027380 nuclear - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000034050 DNA SEQ - - CRYAA, CRYGD 4 Johan den Dunnen



Variants

4 entries on 1 page. Showing entries 1 - 4.
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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     

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 Unknown -/. - benign g.208986637T>C g.208121913T>C R95R - CRYGD_000006 - PubMed: Santana 2009 - rs2305430 Germline - - - 0 - Johan den Dunnen CRYGD - - - - - 3 NM_006891.3:c.285A>G - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
2 Parent #1 +/. - pathogenic g.208988920G>C g.208124196G>C - - CRYGD_000011 - PubMed: Santana 2009 - - Germline - - - 0 - Johan den Dunnen CRYGD - - - - - 2 NM_006891.3:c.168C>G - r.(?) p.(Tyr56*) - - - - - - - - - - - - - - - - - - - -
2 Unknown -/. - benign g.208989037A>G g.208124313A>G Y17Y - CRYGD_000007 - PubMed: Santana 2009 - rs2242074 Germline - - - 0 - Johan den Dunnen CRYGD - - - - - 2 NM_006891.3:c.51T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
21 Unknown -/. - benign g.44589215C>T g.43169105C>T D2D - CRYAA_000010 - PubMed: Santana 2009 - rs872331 Germline - - - 0 - Johan den Dunnen CRYAA - - - - - 1 NM_000394.2:c.6C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - - -
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