All variants in the MUTYH gene


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

7 entries on 1 page. Showing entries 1 - 7.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
?/. _1 c.-216-2721C>T r.(=) p.(=) - - VUS g.45808863G>A g.45343191G>A NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 - DUPLICATE – to be removed - rs9429157 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-216-2721C>T r.(=) p.(=) - - 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
?/. _1 c.-216-2721C>T r.(=) p.(=) - - 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
?/. _1 c.-216-2721C>T r.(=) p.(=) - - 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
?/. _1 c.-216-2721C>T r.(=) p.(=) - - 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
?/. _1 c.-216-2721C>T r.(=) p.(=) - - 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
?/. _1 c.-216-2721C>T r.(=) p.(=) - - 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
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