Individual #00188575

ID_report -
Reference PubMed: Haraldsdottir 2018
Remarks -
Gender F
Consanguinity -
Country Iceland
Population -
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases CRC
Owner name Sigurdis Haraldsdottir


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     
0000147218 - Unknown - - - 31y - Malignant neoplasm of rectum MLH1+;MSH2+;MSH6+;PMS2- - CRC diagnosed 2000-2009 - - - Sigurdis Haraldsdottir



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000189544 DNA SEQ - Imputation of 31.6 million variants based on WGS of 8,453 Icelanders - variant confirmed by genotyping; screen date 2015-01-01 - 1 Sigurdis Haraldsdottir



Variants

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.6037019_6037024delinsCTTCACACACA - - - PMS2_000187 Founder mutation; Carrier frequency in Iceland: 0.234% - odds ratio for colorectal cancer 3.6 (2.2-5.9); endometrial cancer 9.9 (4.9-19.8); ovarian cancer 3.9 (1.3-11.9) PubMed: Haraldsdottir 2018 - - Germline - - - 0 - Sigurdis Haraldsdottir PMS2 - - - - - 7 NM_000535.5:c.736_741delinsTGTGTGTGAAG - pathogenic r.(?) p.(Pro246Cysfs*3) - - - - - - - - - - - - - - - - - - -
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