All transcript variants in gene MUTYH


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

18 entries on 1 page. Showing entries 1 - 18.
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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.157+30A>G r.(=) p.(=) - - benign g.45800033T>C g.45334361T>C MUTYH(NM_001128425.1):c.157+30A>G - MUTYH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.157+30A>G r.(=) p.(=) - - benign g.45800033T>C g.45334361T>C MUTYH(NM_001128425.1):c.157+30A>G - MUTYH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2i c.157+30A>G r.(?) p.(=) - - benign g.45800033T>C g.45334361T>C - - MUTYH_000006 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - Angela Solano & F Cardoso
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - DUPLICATE – to be removed - rs3219485 Germline - - - 0 - InSiGHT - John-Paul Plazzer
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2006 - rs3219485 Unknown - - - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2006 - rs3219485 Unknown - - - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - Clinical Genetics, LUMC, Leiden, NL - rs3219485 Germline - - - 0 - Carli Tops
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Küry 2007 - rs3219485 Unknown - - - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C 156+30A>G - MUTYH_000006 - MGZ, Munchen, DE - rs3219485 Unknown - >0.01 - 0 - Elke Holinski-Feder
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C IVS2+30A>G - MUTYH_000006 www.fruitfly.org: no splicing effect PubMed: Zhou 2005 - rs3219485 Unknown - 9,2% of n=84 - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 Frequency in 62 probands New York, 13 Milan, 5 Madrid; splice site not affected PubMed: Peterlongo 2006 - rs3219485 Unknown - 3/160 alleles - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Al-Tassan 2003 - rs3219485 Germline - 23/540 (4.3%) - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Al-Tassan 2003 - rs3219485 Germline - 10/206 (4.9%) - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 1/58 (1.7%) - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 3/60 (5.0%) - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 3/60 (5.0%) - 0 - Astrid Out
?/. 2i c.157+30A>G r.(=) p.(=) - - VUS g.45800033T>C g.45334361T>C - - MUTYH_000006 - PubMed: Görgens 2007 - rs3219485 Germline - 3/60 (5.0%) - 0 - Astrid Out
-/. - c.157+30A>G r.(=) p.(=) - - benign g.45800033T>C g.45334361T>C - - MUTYH_000006 56 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs3219485 Germline - 56/2794 individuals - 0 - Mohammed Faruq
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