Individual #00203000

ID_report 15943555_84_1
Reference PubMed: Zhou 2005
Remarks 2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations
Gender -
Consanguinity -
Country Sweden
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
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     
0000150147 - Unknown - - - - - - - - - - - - Astrid Out



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204031 DNA DHPLC;SEQ leukocyte ex 1-16 screen MUTYH gene (group) MUTYH 1 Astrid Out



Variants

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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.45805880G>A g.45340208G>A IVS1+11C>T - MUTYH_000003 www.fruitfly.org: no splicing effect PubMed: Zhou 2005 - - Unknown - 2,1% of n=84 - 0 - Astrid Out MUTYH - - - - - 1i NM_001128425.1:c.36+11C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
Legend   How to query