Screening #0000184613

Individual ID 00183645
Template DNA
Technique SEQ-NG-I
Tissue buccal swab
Remarks -
Variants found? 1
Owner name Paul Iordache


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
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 3 p22.3 1 9626 1520 2019-11-11 HNPCC, HNPCC-1 (Lynch), HNPCC-2, MMRCS, MRTES, Adenoma sebaceum
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2 p21 1 7743 1384 2019-11-13 HNPCC, HNPCC-1 (Lynch), MMRCS, MRTES, Adenoma sebaceum
MSH6 mutS homolog 6 (E. coli) 2 p16 1 3729 927 2019-11-11 HNPCC, HNPCC-1 (Lynch), HNPCC-5, MMRCS, Adenoma sebaceum, cancer, endometrial
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 p22.1 1 1912 457 2019-11-11 HNPCC, HNPCC-1 (Lynch), HNPCC-4, MMRCS, Adenoma sebaceum



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.112174973C>T - - - APC_001189 - - - - Unknown - - - 0 - Paul Iordache APC - - - - - - NM_000038.5:c.3682C>T - VUS r.(?) p.(Gln1228*) - - - - - - - - - - - - - - - - - - -
Legend