Screening #0000187999

Individual ID 00187030
Template DNA
Technique ?
Tissue -
Remarks -
Variants found? 1
Owner name Elke Holinski-Feder


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
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     
7 Unknown ?/. g.6045600C>G - c.86C>G - PMS2_000370 Variant reported on ClinVar. Bioinformatically highly suspect in DNA mismatch and repair Domain, AA und Nuk highly conserved. InSiGHT Variant Interpretation Committee April 2016 - - Germline - - - 0 - Elke Holinski-Feder PMS2 - - - - - 2 NM_000535.5:c.86G>C - VUS r.(?) p.(Gly29Ala) - - - - - - - - - - - - - - - - - - -
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