Screening #0000108652

Individual ID 00108184
Template DNA
Technique SEQ-NG;PCRm
Tissue -
Remarks -
Variants found? 1
Owner name Esther Sarasola


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
APC adenomatous polyposis coli 5 q21-q22 1 5360 1754 2019-11-04 cancer, gastric, cancer, liver, CRC, FAP-1, HDD, polyposis
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     
5 Unknown ?/. g.112177418A>G - - - APC_001556 - - - - Unknown ? - - 0 - Esther Sarasola APC - - - - - 18 NM_000038.5:c.6127A>G - VUS r.(?) p.(Ile2043Val) - - - - - - - - - - - - - - - - - - -
Legend