MUTYH mutY DNA glycosylase

Information
Symbol
MUTYH
Type
protein-coding
Description
mutY DNA glycosylase
Entrez Gene ID
4595
Genome
hg19
Position
chr1:45,794,914-45,806,112
Genome
hg38
Position
chr1:45,329,242-45,340,440
MIM
604933 OMIM
HGNC
HGNC:7527 HGNC
Ensembl
ENSG00000132781 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 15 422
Likely pathogenic 5 348
Benign 20 104
Likely benign 3 1,758
Conflicting classifications of pathogenicity 0 412
not provided 6 0
other 1 0
Uncertain significance 116 2,610
Ranking
ClinVar
0
0
2,354
2,648
34
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM MYH
MIM 604933 OMIM
HGNC HGNC:7527 HGNC
Ensembl ENSG00000132781 Ensembl
AllianceGenome HGNC:7527
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000456914.7 hg38 chr1 45,329,242 45,339,970 10,729
ENST00000483127.2 hg38 chr1 45,329,242 45,339,945 10,704
ENST00000354383.10 hg38 chr1 45,329,242 45,340,080 10,839
ENST00000529984.5 hg38 chr1 45,329,163 45,340,447 11,285
ENST00000448481.5 hg38 chr1 45,329,242 45,339,935 10,694
ENST00000672818.3 hg38 chr1 45,329,242 45,340,440 11,199
ENST00000528013.6 hg38 chr1 45,329,306 45,339,946 10,641
ENST00000488731.6 hg38 chr1 45,329,243 45,339,995 10,753
ENST00000372098.7 hg38 chr1 45,329,242 45,340,388 11,147
ENST00000412971.6 hg38 chr1 45,329,242 45,340,381 11,140
ENST00000713751.1 hg38 chr1 45,329,244 45,340,011 10,768
ENST00000713750.1 hg38 chr1 45,329,242 45,334,969 5,728
ENST00000372110.7 hg38 chr1 45,329,242 45,340,388 11,147
ENST00000710952.2 hg38 chr1 45,329,242 45,340,440 11,199
ENST00000372115.7 hg38 chr1 45,329,242 45,340,470 11,229
ENST00000529892.6 hg38 chr1 45,329,248 45,340,415 11,168
ENST00000355498.6 hg38 chr1 45,329,242 45,340,115 10,874
ENST00000531105.5 hg38 chr1 45,329,246 45,340,163 10,918
ENST00000372104.5 hg38 chr1 45,329,242 45,339,935 10,694
ENST00000672314.2 hg38 chr1 45,329,255 45,336,629 7,375
ENST00000372104.5 hg19 chr1 45,794,914 45,805,607 10,694
ENST00000354383.10 hg19 chr1 45,794,914 45,805,752 10,839
ENST00000355498.6 hg19 chr1 45,794,914 45,805,787 10,874
ENST00000372110.7 hg19 chr1 45,794,914 45,806,060 11,147
ENST00000372098.7 hg19 chr1 45,794,914 45,806,060 11,147
ENST00000372115.7 hg19 chr1 45,794,914 45,806,142 11,229
ENST00000412971.6 hg19 chr1 45,794,914 45,806,053 11,140
ENST00000529984.5 hg19 chr1 45,794,835 45,806,119 11,285
ENST00000448481.5 hg19 chr1 45,794,914 45,805,607 10,694
ENST00000456914.7 hg19 chr1 45,794,914 45,805,642 10,729
ENST00000529892.6 hg19 chr1 45,794,920 45,806,087 11,168
ENST00000488731.6 hg19 chr1 45,794,915 45,805,667 10,753
ENST00000531105.5 hg19 chr1 45,794,918 45,805,835 10,918
ENST00000483127.2 hg19 chr1 45,794,914 45,805,617 10,704
ENST00000528013.6 hg19 chr1 45,794,978 45,805,618 10,641
ENST00000672314.2 hg19 chr1 45,794,927 45,802,301 7,375
ENST00000710952.2 hg19 chr1 45,794,914 45,806,112 11,199
ENST00000672818.3 hg19 chr1 45,794,914 45,806,112 11,199
ENST00000713750.1 hg19 chr1 45,794,914 45,800,641 5,728
ENST00000713751.1 hg19 chr1 45,794,916 45,805,683 10,768
KeyValue
strand-
UniProtTSG
start45,794,913
Gene SymbolMUTYH
Entrez GeneId4,595
Chr Band1p34.3-1p32.1
end45,806,141
chrchr1
NamemutY homolog (E. coli)
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