Full data view for gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

Classification method     

Clinical classification     

DNA 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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 c.-165C>T r.(=) p.(=) - Unknown - VUS g.45806091G>A g.45340419G>A - - MUTYH_000083 - DUPLICATE – to be removed - rs3219466 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-165C>T r.(=) p.(=) - Unknown - VUS g.45806091G>A g.45340419G>A - - MUTYH_000083 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 1/160 alleles - 0 - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_-165 PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - 0 - - 1 Astrid Out
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