Individual #00203112

ID_report 16774938_patients_-165
Reference PubMed: Peterlongo 2006
Remarks Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan
Gender -
Consanguinity -
Country United States
Population Spain, Italy
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Astrid Out


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000150259 - - Unknown - - polyps and/or CRC - - - - - Astrid Out



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204143 DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) MUTYH 1 Astrid Out



Variants

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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.45806091G>A g.45340419G>A - - MUTYH_000083 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 1/160 alleles - 0 - Astrid Out MUTYH - - - - - _1 NM_001128425.1:c.-165C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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