Full data view for gene MUTYH


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

16 entries on 1 page. Showing entries 1 - 16.
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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     

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Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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VIP     

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Owner     
-/. - c.36+325C>G r.(=) p.(=) - Unknown - benign g.45805566G>C g.45339894G>C MUTYH(NM_001128425.1):c.36+325C>G, TOE1(NM_025077.4):c.-359G>C - MUTYH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. DUPLICATE – to be removed - rs3219468 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - DNA PCRdig, SEQ - - CRC - PubMed: Kambara 2004 - M - Australia - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - DNA PCRdig, SEQ - - ? - PubMed: Kambara 2004 - - - Australia - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - DNA PCRdig, SEQ - - ? - PubMed: Kambara 2004 2 healthy blood donors - - Australia - - 0 - - 2 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - cancer, lung 12056405_1 PubMed: Yamaguchi 2002 among 51 lung cancer cell lines - - - - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - cancer, esophageal 12056405_2 PubMed: Yamaguchi 2002 among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - United States - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - cancer, skin 12056405_3 PubMed: Yamaguchi 2002 among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - United States - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Parent #1 - VUS g.45805566C>G - IVS1+5G>C; 156+5G>C - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. MGZ, Munchen, DE - rs3219468 Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - 0 - - 1 Elke Holinski-Feder
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - 35+325G>C - MUTYH_000004 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Barnetson 2007 - rs3219468 Unknown - 0.01 (?); n=225 - 0 - DNA SEQ - - cancer, endometrial PMID17956577_7 PubMed: Barnetson 2007 detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified. - - Ireland - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.? p.? - Unknown - VUS g.45805566C>G - - - MUTYH_000004 The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Plotz 2012 - rs3219468 Germline - 1/54 controls - 0 - DNA SEQ, TaqMan leukocyte - ? - PubMed: Plotz 2012 Control individual, age 34 F - Germany German - 0 - - 1 Guido Plotz
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - CRC 12056405_4 PubMed: Yamaguchi 2002 among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - United States - - 0 - - 2 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. NCBI reference sequence NC_000001.10 - rs3219468 Unknown - - - 0 - DNA SEQ - - ? - NCBI reference sequence NC_000001.10 Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226 - - - - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. NCBI reference sequence NT_032977.9 - rs3219468 Unknown - - - 0 - DNA SEQ - - ? - NCBI reference sequence NT_032977.9 Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226 - - - - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C r.spl p.? - Unknown - VUS g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Plotz 2012 - rs3219468 Germline - 1/54 controls - 0 - DNA, RNA SEQ, TaqMan leukocyte - polyposis - PubMed: Plotz 2012 - F - Germany German - 0 - - 1 Guido Plotz
+?/. - c.585A>G r.(?) p.(Ile195Met) - Unknown - likely pathogenic g.72211927T>C g.71299692T>C - - MUTYH_000004 - PubMed: Huang 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel glaucoma G455 PubMed: Huang 2015 family M - China - - 0 - - 1 -
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