Individual #00033908

ID_report -
Reference -
Remarks -
Gender -
Consanguinity -
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
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 2010-03-13 19:44:39 +01:00 (CET)
Date last edited 2012-05-18 13:59:33 +02:00 (CEST)


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     
0000027306 congenital - - Familial, autosomal dominant - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000033976 DNA SEQ - - CRYAA, CRYBB2 6 Johan den Dunnen



Variants

6 entries on 1 page. Showing entries 1 - 6.
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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     
21 Paternal (confirmed) -/. - benign g.44589215C>T g.43169105C>T 6T>C - CRYAA_000010 - PubMed: Graw 2006 - rs872331 Germline - - - - - Johan den Dunnen CRYAA - - - - 1 NM_000394.2:c.6C>T - r.(?) p.(=) - - - - - - - - - - - - - -
21 Parent #1 +/. - pathogenic g.44589271G>T g.43169161G>T 62C>T - CRYAA_000008 not in 192 control chromosomes PubMed: Graw 2006 - - Germline - - HpaII- - - Johan den Dunnen CRYAA - - - - 1 NM_000394.2:c.62G>T - r.(?) p.(Arg21Leu) - - - - - - - - - - - - - -
22 Maternal (confirmed) -/. - benign g.25621123C>A g.25225156C>A IVS3+120C>A - CRYBB2_000018 - PubMed: Graw 2006 - - Germline - - - - - Johan den Dunnen CRYBB2 - - - - 3i NM_000496.2:c.173+120C>A - r.(=) p.(=) - - - - - - - - - - - - - -
22 Maternal (confirmed) -/. - benign g.25623483G>A g.25227516G>A IVS3-337G>A - CRYBB2_000005 - PubMed: Graw 2006 - - Germline - - - - - Johan den Dunnen CRYBB2 - - - - 3i NM_000496.2:c.174-337G>A - r.(=) p.(=) - - - - - - - - - - - - - -
22 Maternal (confirmed) -/. - benign g.25625553C>T g.25229586C>T IVS5+8C>T - CRYBB2_000016 - PubMed: Graw 2006 - - Germline - - - - - Johan den Dunnen CRYBB2 - - - - 5i NM_000496.2:c.449+8C>T - r.(=) p.(=) - - - - - - - - - - - - - -
22 Paternal (confirmed) -/. - benign g.25625554G>A g.25229587G>A IVS5+9G>A - CRYBB2_000006 homozygous in father PubMed: Graw 2006 - rs55700037 Germline - - - - - Johan den Dunnen CRYBB2 - - - - 5i NM_000496.2:c.449+9G>A - r.(=) p.(=) - - - - - - - - - - - - - -
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