Individual #00203275

ID_report -
Reference Molecular Medicine, AUH, Skejby, Aarhus, DK
Remarks 4/115 polyposis and/or CRC patients heterozygous c.[1014G>C(+)1544C>T], minor allele frequency c.1014G>C: 44/230; c.1544C>T: 5/230
Gender -
Consanguinity -
Country Denmark
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 4
Diseases polyposis
Owner name Mette Gaustadnes


Phenotypes

polyposis (polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Cysts     

Eye/Retina     

Neoplasm     

Owner     
0000150422 - - - Unknown - - - - - - - - - Mette Gaustadnes



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204306 DNA SEQ leukocyte screen MUTYH gene (index; group) MUTYH 2 Mette Gaustadnes



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
1 Unknown ?/. - VUS g.45795084G>A g.45329412G>A 1502C>T (Ser501Phe) - MUTYH_000094 - Molecular Medicine, AUH, Skejby, Aarhus, DK - - Unknown - 5/230 - 0 - Mette Gaustadnes MUTYH - - - - - 16 NM_001128425.1:c.1544C>T - r.(1544c>u) p.(Ser515Phe) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45797505C>G g.45331833C>G 972G>C (Gln324His) - MUTYH_000063 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219489 Unknown - 44/230 - 0 - Mette Gaustadnes MUTYH - - - - - 12 NM_001128425.1:c.1014G>C - r.(1014g>c) p.(Gln338His) - - - - - - - - - - - - - - - - - - - -
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