All variants in the MUTYH gene


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

19 entries on 1 page. Showing entries 1 - 19.
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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.-127C>T r.(?) p.(=) - - benign g.45806053G>A g.45340381G>A - - MUTYH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1 c.-127C>T r.(?) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - DUPLICATE – to be removed - - Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - http://egp.gs.washington.edu/data/mutyh/ - rs3219466 Unknown - 0.02 - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - Carli Tops
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 4/160 alleles - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219466 Unknown - 6/230 - 0 - Mette Gaustadnes
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - Astrid Out
?/. _1 c.-127C>T r.(=) p.(=) - - VUS g.45806053G>A g.45340381G>A ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous - 0 - Astrid Out
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