Full data view for gene MUTYH


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

20 entries on 1 page. Showing entries 1 - 20.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.1431G>C r.(=) p.(=) - Parent #1 - benign g.45796899C>G g.45331227C>G - - MUTYH_000085 in combination with MUTYH c.1477-28G>A; frequency up to 5% - - rs74318065 Germline - frequency up to 5% - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.1431G>C r.(?) p.(Thr477=) - Unknown - likely benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1431G>C r.(?) p.(Thr477=) - Unknown - benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1431G>C r.(?) p.(Thr477=) - Unknown - benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1431G>C r.(?) p.(Thr477=) - Unknown - likely benign g.45796899C>G g.45331227C>G MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 - PubMed: Shinmura 2001 - - Unknown - - - - - DNA SSCA, SEQ - - - PMID11295288_3 PubMed: Shinmura 2001 - - - Japan - - - - - 4 Carli Tops
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 - PubMed: Fleischmann 2004 - - Unknown - 0.05 - - - DNA SEQ - - ? PMID14991577_6 PubMed: Fleischmann 2004 - - - - - - - - - 1 Carli Tops
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Parent #1 - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 Also germline whole gene deletion APC gene; Alamut: no major effect on splice sites predicted; ESE change PubMed: Nielsen et al. 2007b; Clinical Genetics, LUMC, Leiden, NL - - Germline - - - - - DNA SEQ leukocyte screen MUTYH gene (index) cancer, colon - PubMed: Nielsen 2007b; Clinical Genetics, LUMC, Leiden, NL Deletion entire APC gene F - Netherlands - - - - - 1 Carli Tops
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 - PubMed: Olschwang 2007 - - Unknown - - - - - DNA SEQ - - CRC - PubMed: Olschwang 2007 No info 2nd allele; Among 406 patients with >5 polyps and/or CRC in France - - - - - - - - 1 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - - Unknown - - - - - DNA PCR - - CRC - PubMed: Tao 2008 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - Japan - - - - - 78 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - - Unknown - - - - - DNA PCR - - ? - PubMed: Tao 2008 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - Japan - - - - - 64 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr); T463T - MUTYH_000085 seemingly nonpathogenic silent sequence change PubMed: Zhou 2005 - - Unknown - 1.1% of n=84 - - - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_8 PubMed: Zhou 2005 1.1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - Sweden - - - - - 1 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 - PubMed: Yanaru-Fujisawa 2008 - - Germline - 8/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) CRC - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 - PubMed: Yanaru-Fujisawa 2008 - - Germline - 8/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H M - Japan - - - - - 1 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 - PubMed: Yanaru-Fujisawa 2008 - - Germline - 8/132 - - - DNA SSCA, SEQ leukocyte SSCA ex 1-16, screen MUTYH gene (index) ? - PubMed: Yanaru-Fujisawa 2008 66 Japanese patients with> 100 colorectal adenomas from 52 families; APC analysis (PTT): 45 with APC mutation; 21 without; 2/21 with biallelic MUTYH variants other than Q324H F - Japan - - - - - 1 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Unknown - VUS g.45796899C>G g.45331227C>G 1389G>C (Thr463Thr) - MUTYH_000085 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - - Unknown - 1/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1431 PubMed: Peterlongo 2006 Among 80 patients 20 or less polyps and/or CRC; families 3 or more CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - - - - 1 Astrid Out
?/. 14 c.1431G>C r.(1431g>c) p.(Thr477Thr) - Parent #1 - VUS g.45796899C>G g.45331227C>G 1389G>C; 1422G>C (Thr463Thr) - MUTYH_000085 - DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL - - Germline - - - - - DNA SEQ - screen MUTYH gene (index) CRC - DNA-Diagnostic Laboratory, NKI-AVL, Amsterdam, NL - M - Netherlands - - - - - 1 Astrid Out
-?/. - c.1431G>C r.(?) p.(Thr477=) - Unknown - likely benign g.45796899C>G - MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1431G>C r.(?) p.(Thr477=) - Unknown - benign g.45796899C>G - MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=) - MUTYH_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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