Screening #0000187886

Individual ID 00186918
Template DNA
Technique SEQ-NG-I;SEQ
Tissue -
Remarks -
Variants found? 1
Owner name Bryony A Thompson


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 3 p22.3 1 9751 1551 2020-08-06 HNPCC, HNPCC-1 (Lynch), HNPCC-2, MMRCS, MRTES, Adenoma sebaceum
MSH2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) 2 p21 1 7840 1416 2020-08-06 HNPCC, HNPCC-1 (Lynch), MMRCS, MRTES, Adenoma sebaceum
MSH6 mutS homolog 6 (E. coli) 2 p16 1 3814 966 2020-08-06 HNPCC, HNPCC-1 (Lynch), HNPCC-5, MMRCS, Adenoma sebaceum, cancer, endometrial
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 p22.1 1 1962 481 2020-08-06 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     

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     
2 Unknown -?/. - likely benign g.47641430C>T g.47414291C>T - - MSH2_001562 Segregation Likelihood Ratio = 0.0013 - - - Germline no - - 0 - Bryony A Thompson MSH2 - - - - - 5 NM_000251.2:c.815C>T - r.(?) p.(Ala272Val) - - - - - - - - - - - - - - - - - - - -
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