Screening #0000203388

Individual ID 00202357
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 1
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

1 entry on 1 page. Showing entry 1.
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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.45796269C>G - 1435-40G>C - MUTYH_000106 - PubMed: Görgens 2006 - rs3219493 Unknown - 12/50 (12%) HNPCC patients (42/50 <50 years); (1.7% (?) of 116 controls) - 0 - Astrid Out MUTYH - - - - - 14i NM_001128425.1:c.1477-40G>C - VUS r.(=) p.(=) - - - - - - - - - - - - - - - - - - -
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