Full data view for gene MUTYH


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

2 entries on 1 page. Showing entries 1 - 2.
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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.35G>A r.(?) p.(Arg12His) - Unknown - likely pathogenic g.72267106C>T g.71354871C>T - - MUTYH_000595 - PubMed: Huang 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel glaucoma G443 PubMed: Huang 2015 family M - China - - 0 - - 1 LOVD
?/. - c.171_172delinsTT r.(?) p.(Met57_Ile58delinsIlePhe) - Parent #1 - NA g.45799261_45799262delinsAA - chr1_45799261_TC_AA - MUTYH_000595 not in 53461 controls; 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 - 1/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
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