Screening #0000203428

Individual ID 00202397
Template DNA
Technique DHPLC;SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Astrid Out


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
MUTYH mutY homolog (E. coli) 1 p34.1 1 3081 352 2019-10-26 cancer, gastric, FAP-2, HDGC, pilomatrixoma



Variants found

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.45797356A>G - 1121T>C (Leu374Pro) - MUTYH_000071 - PubMed: Aceto 2005 - - Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - 0 - Astrid Out MUTYH - - - - - 12 NM_001128425.1:c.1163T>C - VUS r.(1163u>c) p.(Leu388Pro) - - - - - - - - - - - - - - - - - - -
1 Unknown +/. g.45798475T>C - 494A>G (Tyr165Cys) - MUTYH_000012 - PubMed: Aceto 2005 - rs34612342 Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - 0 - Astrid Out MUTYH - - - - - 7 NM_001128425.1:c.536A>G - pathogenic r.(536a>g) p.(Tyr179Cys) - - - - - - - - - - - - - - - - - - -
Legend