All variants in the MUTYH gene


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

10 entries on 1 page. Showing entries 1 - 10.
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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     
-/. - c.36+11C>T r.(=) p.(=) - - benign g.45805880G>A g.45340208G>A MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.36+11C>T r.(=) p.(=) - - benign g.45805880G>A g.45340208G>A MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1i c.36+11C>T r.(=) p.(=) - - VUS g.45805880G>A g.45340208G>A IVS1+11C>T - MUTYH_000003 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 1i c.36+11C>T r.(=) p.(=) - - VUS g.45805880G>A g.45340208G>A - - MUTYH_000003 - Clinical Genetics, LUMC, Leiden, NL - rs2275602 Germline - - - 0 - Carli Tops
?/. 1i c.36+11C>T r.(=) p.(=) - - VUS g.45805880G>A g.45340208G>A - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - Astrid Out
?/. 1i c.36+11C>T r.(=) p.(=) - - VUS g.45805880G>A g.45340208G>A - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - Astrid Out
?/. 1i c.36+11C>T r.(=) p.(=) - - VUS g.45805880G>A g.45340208G>A IVS1+11C>T - MUTYH_000003 www.fruitfly.org: no splicing effect PubMed: Zhou 2005 - - Unknown - 2,1% of n=84 - 0 - Astrid Out
-/. - c.36+11C>T r.(=) p.(=) - - benign g.45805880G>A g.45340208G>A MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.36+11C>T r.(=) p.(=) - - benign g.45805880G>A g.45340208G>A MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.36+11C>T r.(=) p.(=) - - likely benign g.45805880G>A - MUTYH(NM_001048171.1):c.36+11C>T (p.(=)), MUTYH(NM_001128425.1):c.36+11C>T, TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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