Full data view for gene MUTYH


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

3 entries on 1 page. Showing entries 1 - 3.
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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.-216-64G>A r.(=) p.(=) - Unknown - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 - DUPLICATE – to be removed - rs3219465 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-64G>A r.(=) p.(=) - Unknown - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - rs3219465 Unknown - - - 0 - DNA PCR - - CRC - PubMed: Tao 2008 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - Japan - - 0 - - 78 Astrid Out
?/. _1 c.-216-64G>A r.(=) p.(=) - Unknown - VUS g.45806206C>T g.45340534C>T -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - rs3219465 Unknown - - - 0 - DNA PCR - - ? - PubMed: Tao 2008 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - Japan - - 0 - - 64 Astrid Out
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