Screening #0000203427

Individual ID 00202396
Template DNA
Technique DHPLC;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 Parent #1 +/. g.45796891_45796893del - 1395_1397del (Glu466del) - MUTYH_000086 - PubMed: Aceto 2005 - - Unknown - 1/29 (3.4%) APC mutation negative (A)FAP patients; 0/79 controls - 0 - Astrid Out MUTYH - - - - - 14 NM_001128425.1:c.1437_1439del - pathogenic r.(1437_1439del) p.(Glu480del) - - - - - - - - - - - - - - - - - - -
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