Individual #00202750

ID_report -
Reference PubMed: Tao 2008
Remarks 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8%
Gender -
Consanguinity -
Country Japan
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 78
Diseases CRC
Owner name Astrid Out


Phenotypes

cancer, colorectal (CRC) (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000149897 - Unknown - - - - - - - - - - - - Astrid Out



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203781 DNA PCR - - MUTYH 4 Astrid Out



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     
1 Unknown ?/. - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - - Unknown - - - 0 - Astrid Out MUTYH - - - - - 14 NM_001128425.1:c.1431G>C - r.(1431g>c) p.(Thr477Thr) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - PubMed: Tao 2008 - rs3219489 Unknown - - - 0 - Astrid Out MUTYH - - - - - 12 NM_001128425.1:c.1014G>C - r.(1014g>c) p.(Gln338His) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45805880G>A g.45340208G>A - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - Astrid Out MUTYH - - - - - 1i NM_001128425.1:c.36+11C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - rs3219465 Unknown - - - 0 - Astrid Out MUTYH - - - - - _1 NM_001128425.1:c.-216-64G>A - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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