Individual #00203528

ID_report -
Reference PubMed: Vogt 2009
Remarks -
Gender M
Consanguinity -
Country (Germany)
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, skin
Owner name Stefan Aretz


Phenotypes

cancer, skin (cancer, skin)   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     
0000150675 benign skin tumor (25);; no EGD; no CRC - - Unknown - 52y - - - - Stefan Aretz



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204559 DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 2 Stefan Aretz



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

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     

ClassClinical     

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     

Protein level     
1 Unknown +/. g.45797835T>G - 891+3A>C - MUTYH_000097 - PubMed: Vogt 2009 - - Germline - - - 0 - Stefan Aretz MUTYH - - - - - 10i NM_001128425.1:c.933+3A>C - pathogenic r.789_933del p.(Gly264TrpfsX7) - - - - - - - - - - - - - - - - - - -
1 Unknown +/. g.45798475T>C - 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Vogt 2009 - rs34612342 Germline - - - 0 - Stefan Aretz MUTYH - - - - - 7 NM_001128425.1:c.536A>G - pathogenic r.(536a>g) p.(Tyr179Cys) - - - - - - - - - - - - - - - - - - -
Legend