Screening #0000203420

Individual ID 00202389
Template DNA
Technique DHPLC;SEQ
Tissue leukocyte
Remarks ex 1-16, screen MUTYH gene (index)
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.
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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.45797228C>T - 1145G>A Gly382Asp; G382D - MUTYH_000075 O Shea et al., 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - rs36053993 Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - 0 - Astrid Out MUTYH - - - - - 13 NM_001128425.1:c.1187G>A - pathogenic r.(1187g>a) p.(Gly396Asp) - - - - - - - - - - - - - - - - - - -
1 Unknown +/. g.45797835T>G - 891+3A>C - MUTYH_000097 O Shea et al., 2008: histopathology and MUTYH IHC of tumors biallelics, monoallelics and non-carriers; Only coding region variants reported PubMed: Croitoru 2007; PubMed: O Shea 2008 - - Germline - 1238 CRC patients (APC neg; >100 polyps excluded), 1255 controls; Biallelic: 12/1238; 0/1255; Monoallelic: 29/1238, 21/1255; LOH MUTYH: 8/17 CRCs monoallelics, 2/10 biallelics - 0 - Astrid Out MUTYH - - - - - 10i NM_001128425.1:c.933+3A>C - pathogenic r.789_933del p.(Gly264TrpfsX7) - - - - - - - - - - - - - - - - - - -
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