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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 13 c.1258C>A r.(1258c>a) p.(Leu420Met) - Unknown - VUS g.45797157G>T g.45331485G>T 1216C>A (Leu406Met) - MUTYH_000141 - DUPLICATE – to be removed - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.1258C>A r.(1258c>a) p.(Leu420Met) - Unknown - VUS g.45797157G>T g.45331485G>T 1216C>A (Leu406Met) - MUTYH_000141 - 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
?/. 13 c.1258C>A r.(1258c>a) p.(Leu420Met) - Unknown - VUS g.45797157G>T g.45331485G>T 1216C>A (Leu406Met) - MUTYH_000141 Frequency in 62 probands New York, 13 Milan, 5 Madrid; detected monoallelic only PubMed: Peterlongo 2006 - - Unknown - 1/160 alleles - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_1258 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
?/. 13 c.1258C>A r.(1258c>a) p.(Leu420Met) - Unknown - VUS g.45797157G>T g.45331485G>T 1216C>A (leu406Met); L417M - MUTYH_000141 - PubMed: Dallosso 2008 - - Germline - - - - - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) CRC - PubMed: Dallosso 2008 33/167 (20%) UK+New-Zealand multiple colorectal adenoma patients (recessive family history) biallelic MUTYH mutations; 0/354 British Caucasian controls biallelic; previously reported 111/167 and 25/33 patients in Sampson et al., 2003 M - United Kingdom (Great Britain);New Zealand - - - - - 1 Astrid Out
?/. 13 c.1258C>A r.(1258c>a) p.(Leu420Met) - Unknown - VUS g.45797157G>T g.45331485G>T 1216C>A (Leu406Met) - MUTYH_000141 only variants reported, not genotypes Genetics, John Hunter Hospital, Newcastle, AU - - Germline - - - - - DNA SEQ - screen MUTYH gene ? - Genetics, John Hunter Hospital, Newcastle, AU - - - Australia - - - - - 1 Rodney Scott
-?/. - c.1258C>A r.(?) p.(Leu420Met) - Unknown - likely benign g.45797157G>T g.45331485G>T MUTYH(NM_001128425.2):c.1258C>A (p.L420M) - MUTYH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1258C>A r.(?) p.(Leu420Met) - Parent #1 - VUS g.45797157G>T g.45331485G>T - - MUTYH_000141 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144079536 Germline - 4/2776 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
?/. - c.1258C>A r.(?) p.(Leu420Met) - Parent #1 - NA g.45797157G>T - chr1_45797157_G_T - MUTYH_000141 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 49/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 49 BRIDGES consortium
?/. - c.1258C>A r.(?) p.(Leu420Met) - Parent #1 - NA g.45797157G>T - chr1_45797157_G_T - MUTYH_000141 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 38/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 38 BRIDGES consortium
?/. - c.1258C>A r.(?) p.(Leu420Met) - Unknown - VUS g.45797157G>T - MUTYH(NM_001128425.2):c.1258C>A (p.L420M) - MUTYH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1258C>A r.(?) p.(Leu420Met) - Unknown - likely benign g.45797157G>T - MUTYH(NM_001128425.2):c.1258C>A (p.L420M) - MUTYH_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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