Individual #00202903

ID_report -
Reference PubMed: Agalliu 2009
Remarks 32/79 (40.5%) heterozygotes among African-American controls (23 homozygotes)
Gender M
Consanguinity -
Country United States
Population African-American
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 32
Diseases ?
Owner name 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     
0000150050 - - Unknown - - - - - - - - Astrid Out



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000203934 DNA SEQ leukocyte allelic discrimination, test known variant (group) MUTYH 1 Astrid Out



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     
1 Unknown ?/. - VUS g.45810091A>G g.45344419A>G - - MUTYH_000039 NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G PubMed: Agalliu 2009 - rs9429072 Unknown - 78/158=49.4% - 0 - Astrid Out MUTYH - - - - - _1 NM_001128425.1:c.-216-3949T>C - r.(=) p.(=) - - - - - - - - - - - - - - - - - - - -
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