Individual #00188427

ID_report -
Reference -
Remarks father adenocarcinoma cecum 62 LOE MLH1/PMS2 & VUS; grandfather rectal ca 65; aunt breast and endometrial ca no LOE; aunt and grandmother breast ca
Gender F
Consanguinity -
Country New Zealand
Population British
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 2
Diseases CRC
Owner name Courtney Forgeng


Phenotypes

cancer, colorectal (CRC) (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Phenotype details     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000147158 - Familial, autosomal dominant - - - 28y - 2 MLH1 variants. No mutations in PMS2; BRAF V600E negative (HRMA;SEQ) MLH1-;PMS2- - IHC - - - Courtney Forgeng



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189396 DNA MLPA - screen data 2008-10-29 MLH1, PMS2 1 Courtney Forgeng



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

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     

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     

Legacy protein change     

Protein level     
3 Paternal (confirmed) ?/. - VUS g.37048541G>A g.37007050G>A - - MLH1_001772 - - - - Germline yes - - 0 - Courtney Forgeng MLH1 - - - - - 5 NM_000249.3:c.440G>A - r.(?) p.(Gly147Glu) - - - - - - - - - - - - - - - - - - - -
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