Screening #0000184507

Individual ID 00183539
Template DNA
Technique SEQ
Tissue -
Remarks -
Variants found? 2
Owner name Elke Holinski-Feder


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
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
MSH3 mutS homolog 3 (E. coli) 5 q11-q12 1 75 58 2019-09-30 cancer, endometrial
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



Variants found

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

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     
2 Maternal (inferred) +/. g.48033758_48033768del - - - MSH6_000654 - - - - Germline yes - - 0 - Elke Holinski-Feder MSH6 - - - - - 9 NM_000179.2:c.3969_3979del - pathogenic r.(?) p.(Phe1323Leufs*14) - - - - - - - - - - - - - - - - - - -
5 Maternal (inferred) +?/. g.79970809del - - - MSH3_000002 - - - - Germline yes - - 0 - Elke Holinski-Feder MSH3 - - - - - 7 NM_002439.4:c.1035del - - r.(?) p.(Leu347*) - - - - - - - - - - - - - - - - - - -
Legend