Individual #00202742

ID_report -
Reference Clinical Genetics, LUMC, Leiden, NL
Remarks -
Gender F
Consanguinity -
Country Netherlands
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, breast
Owner name Carli Tops


Phenotypes

cancer, breast (cancer, breast)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Diagnosis/Criteria     

Owner     
0000149889 - - - Unknown - - - - - - Carli Tops



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203773 DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 3 Carli Tops



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     

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     
1 Unknown ?/. - VUS g.45797287C>T g.45331615C>T 1144+46G>A - MUTYH_000161 - Clinical Genetics, LUMC, Leiden, NL - - Germline - - - 0 - Carli Tops MUTYH - - - - - 12i NM_001128425.1:c.1186+46G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Clinical Genetics, LUMC, Leiden, NL - rs3219489 Germline - - - 0 - Carli Tops MUTYH - - - - - 12 NM_001128425.1:c.1014G>C - r.(1014g>c) p.(Gln338His) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - Carli Tops MUTYH - - - - - _1 NM_001128425.1:c.-127C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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