Screening #0000003205

Individual ID 00003286
Template DNA
Technique SEQ-NG-I
Tissue -
Remarks -
Variants found? 1
Owner name Christopher Watson


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
MSH6 mutS homolog 6 (E. coli) 2 p16 1 3668 927 2019-09-09 HNPCC, HNPCC-1 (Lynch), HNPCC-5, MMRCS, Adenoma sebaceum, cancer, endometrial



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     
2 Unknown ?/. g.48033794_48033798dup g.47806655_47806659dup - - MSH6_001152 - - - - Germline - - - 0 - Christopher Watson MSH6 - - - - - 9i NM_000179.2:c.4001+4_4001+8dup - VUS r.(spl?) p.? - - - - - - - - - - - - - - - - - - -
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