Individual #00051836

ID_report -
Reference -
Remarks -
Gender -
Consanguinity ?
Country -
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases Healthy/Control
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 2013-05-20 12:49:57 +02:00 (CEST)
Date last edited N/A


Phenotypes

Healthy individual / control (Healthy/Control)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000038429 - - - Unknown - - - - - Johan den Dunnen



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000051784 DNA SEQ - - CYP1B1 3 Johan den Dunnen



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     
2 Parent #1 ?/. - VUS g.38298150A>G g.38071007A>G 4379C>T - CYP1B1_001002 - Rahman et al., unpublished - - Unknown ? - - - - Johan den Dunnen CYP1B1 - - - - 3 NM_000104.3:c.1347T>C CYP1B1*8 r.(?) p.(=) - - - - - - - - - - - - - -
2 Parent #1 ?/. - VUS g.38298176C>G g.38071033C>G 4353G>C - CYP1B1_000008 - Rahman et al., unpublished - - Unknown ? - - - - Johan den Dunnen CYP1B1 - - - - 3 NM_000104.3:c.1321G>C CYP1B1*8 r.(?) p.(Asp441His) - - - - - - - - - - - - - -
2 Parent #1 ?/. - VUS g.38298203G>C g.38071060G>C 4326C>G - CYP1B1_000003 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. Rahman et al., unpublished - rs1056836 Unknown ? - - - - Johan den Dunnen CYP1B1 - - - - 3 NM_000104.3:c.1294C>G CYP1B1*8 r.(?) p.(Leu432Val) - - - - - - - - - - - - - -
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