Screening #0000184612

Individual ID 00183644
Template DNA
Technique SEQ-NG-I
Tissue buccal swab
Remarks -
Variants found? 2
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 5429 1786 2020-06-24 cancer, gastric, cancer, liver, CRC, FAP-1, HDD, polyposis
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 3 p22.3 1 9738 1545 2020-06-24 HNPCC, HNPCC-1 (Lynch), HNPCC-2, MMRCS, MRTES, Adenoma sebaceum
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2 p21 1 7826 1411 2020-07-20 HNPCC, HNPCC-1 (Lynch), MMRCS, MRTES, Adenoma sebaceum
MSH6 mutS homolog 6 (E. coli) 2 p16 1 3794 955 2020-07-20 HNPCC, HNPCC-1 (Lynch), HNPCC-5, MMRCS, Adenoma sebaceum, cancer, endometrial
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 p22.1 1 1951 476 2020-06-24 HNPCC, HNPCC-1 (Lynch), HNPCC-4, MMRCS, Adenoma sebaceum



Variants found

2 entries on 1 page. Showing entries 1 - 2.
Legend  

Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
5 Unknown ?/. - VUS g.112174071C>G g.112838374C>G - - APC_001792 - - - - Unknown - - - 0 - Paul Iordache APC - - - - - - NM_000038.5:c.2780C>G - r.(?) p.(Ala927Gly) - - - - - - - - - - - - - - - - - - - -
5 Unknown ?/. - VUS g.112176407T>A g.112840710T>A - - APC_001795 - - - - Unknown - - - 0 - Paul Iordache APC - - - - - - NM_000038.5:c.5116T>A - r.(?) p.(Ser1706Thr) - - - - - - - - - - - - - - - - - - - -
Legend