Individual #00203325

ID_report -
Reference Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK
Remarks -
Gender -
Consanguinity -
Country Denmark
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases ?
Owner name Rikke Veggerby Groenlund


Phenotypes

unclassified / mixed (?)   Add phenotype for this disease

AscendingPhenotype ID     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Phenotype details     

Age/Onset     

Phenotype/Onset     

Protein     

Tumor/MSI     

Diagnosis/Criteria     

Owner     
0000150472 - - Unknown - - - - - - - - Rikke Veggerby Groenlund



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204356 DNA SEQ leukocyte screen MUTYH gene (index) MUTYH 2 Rikke Veggerby Groenlund



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 +/. - pathogenic g.45797228C>T g.45331556C>T 1145G>A (Gly382Asp) - MUTYH_000075 - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - rs36053993 Unknown - - - 0 - Rikke Veggerby Groenlund MUTYH - - - - - 13 NM_001128425.1:c.1187G>A - r.(1187g>a) p.(Gly396Asp) - - - - - - - - - - - - - - - - - - - -
1 Unknown ?/. - VUS g.45805907C>T g.45340235C>T 20G>A (Arg7His) - MUTYH_000256 - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - - Unknown - - - 0 - Rikke Veggerby Groenlund MUTYH - - - - - 1 NM_001128425.1:c.20G>A - r.(20g>a) p.(Arg7His) - - - - - - - - - - - - - - - - - - - -
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