Screening #0000196090

Individual ID 00195121
Template DNA
Technique ?
Tissue -
Remarks -
Variants found? 2
Owner name INSiGHT group


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 9656 1537 2019-11-27 HNPCC, HNPCC-1 (Lynch), HNPCC-2, MMRCS, MRTES, Adenoma sebaceum
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 7 p22.1 1 1925 468 2019-12-04 HNPCC, HNPCC-1 (Lynch), HNPCC-4, MMRCS, Adenoma sebaceum



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     
3 Unknown ?/. g.37038191C>T - - - MLH1_001725 MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del Mark Jenkins - - Germline - - - 0 - INSiGHT group MLH1 - - - - - 2 NM_000249.3:c.198C>T - VUS r.(?) p.? - - - - - - - - - - - - - - - - - - -
7 Unknown +/. g.(?_6012870)_(6048737_?)del - MLH1:c.198C>T; PMS2:c.(?_-87)_(*160_?)del - PMS2_000007 - Mark Jenkins - - Germline - - - 0 - INSiGHT group PMS2 - - - - - _1_15_ NM_000535.5:c.(?_-87)_(*160_?)del - pathogenic r.(?) p.? - - - - - - - - - - - - - - - - - - -
Legend