Full data view for gene MUTYH


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

11 entries on 1 page. Showing entries 1 - 11.
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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     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.36+11C>T r.(=) p.(=) - Unknown - benign g.45805880G>A g.45340208G>A MUTYH(NM_001128425.1):c.36+11C>T (, p.(=)), TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.36+11C>T r.(=) p.(=) - Unknown - benign g.45805880G>A g.45340208G>A MUTYH(NM_001128425.1):c.36+11C>T (, p.(=)), TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+11C>T r.(=) p.(=) - Unknown - VUS g.45805880G>A g.45340208G>A IVS1+11C>T - MUTYH_000003 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+11C>T r.(=) p.(=) - Parent #1 - VUS g.45805880G>A g.45340208G>A - - MUTYH_000003 - Clinical Genetics, LUMC, Leiden, NL - rs2275602 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) cancer, duodenal - Clinical Genetics, LUMC, Leiden, NL - M - (Netherlands) - - 0 - - 1 Carli Tops
?/. 1i c.36+11C>T r.(=) p.(=) - Unknown - VUS g.45805880G>A g.45340208G>A - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - DNA PCR - - CRC - PubMed: Tao 2008 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - Japan - - 0 - - 78 Astrid Out
?/. 1i c.36+11C>T r.(=) p.(=) - Unknown - VUS g.45805880G>A g.45340208G>A - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - DNA PCR - - ? - PubMed: Tao 2008 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - Japan - - 0 - - 64 Astrid Out
?/. 1i c.36+11C>T r.(=) p.(=) - Unknown - 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 - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_1 PubMed: Zhou 2005 2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - Sweden - - 0 - - 1 Astrid Out
-/. - c.36+11C>T r.(=) p.(=) - Unknown - benign g.45805880G>A g.45340208G>A MUTYH(NM_001128425.1):c.36+11C>T (, p.(=)), TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36+11C>T r.(=) p.(=) - Unknown - benign g.45805880G>A g.45340208G>A MUTYH(NM_001128425.1):c.36+11C>T (, p.(=)), TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36+11C>T r.(=) p.(=) - Unknown - likely benign g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (, p.(=)), TOE1(NM_025077.4):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.679G>C r.(?) p.(Ala227Pro) - Unknown - likely pathogenic g.72211429C>G g.71299194C>G - - MUTYH_000003 - PubMed: Huang 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel glaucoma G543 PubMed: Huang 2015 family M - China - - 0 - - 1 -
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