Individual #00090301

ID_report -
Reference -
Remarks gene panel study on colon cancer cases
Gender -
Consanguinity -
Country United States
Population -
Age/Death -
VIP 0
Data_av data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database
Treatment -
Panel size 7
Diseases CRC
Owner name Melissa DeRycke


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000090446 DNA SEQ-NG-I blood - APC 1 Melissa DeRycke



Variants

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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     
5 Parent #1 ?/. g.112174677T>C g.112838980T>C - - APC_000107 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - Melissa DeRycke APC - - - - - 18 NM_000038.5:c.3386T>C - VUS r.(?) p.(Leu1129Ser) - - - - - - - - - - - - - - - - - - -
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