Individual #00203710

ID_report 17417778_controls_c-216-2721_HOM
Reference PubMed: Schafmayer 2007
Remarks -
Gender -
Consanguinity -
Country Germany
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 3
Diseases ?
Owner name Astrid Out
Database submission license No license selected
Created by Astrid Out


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     
0000150857 - - Unknown - - - - - - - - Astrid Out



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000204741 DNA SEQ leukocyte allelic discrimination, test known variant (group) MUTYH 2 Astrid Out



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 Parent #2 ?/. - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - Astrid Out MUTYH - - - - - _1 NM_001128425.1:c.-216-2721C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
1 Parent #1 ?/. - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - Astrid Out MUTYH - - - - - _1 NM_001128425.1:c.-216-2721C>T - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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