MLH3 mutL homolog 3

Information
Symbol
MLH3
Type
protein-coding
Description
mutL homolog 3
Entrez Gene ID
27030
Genome
hg19
Position
chr14:75,480,478-75,518,170
Genome
hg38
Position
chr14:75,013,775-75,051,467
MIM
604395 OMIM
HGNC
HGNC:7128 HGNC
Ensembl
ENSG00000119684 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 1 10
Benign 0 132
Likely benign 1 1,470
Conflicting classifications of pathogenicity 0 184
Uncertain significance 23 3,138
Ranking
ClinVar
0
0
1,266
3,414
6
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 HNPCC7
MIM 604395 OMIM
HGNC HGNC:7128 HGNC
Ensembl ENSG00000119684 Ensembl
AllianceGenome HGNC:7128
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000556257.5 hg38 chr14 75,016,787 75,051,457 34,671
ENST00000355774.7 hg38 chr14 75,013,775 75,051,467 37,693
ENST00000380968.6 hg38 chr14 75,013,769 75,051,532 37,764
ENST00000380968.6 hg19 chr14 75,480,472 75,518,235 37,764
ENST00000355774.7 hg19 chr14 75,480,478 75,518,170 37,693
ENST00000556257.5 hg19 chr14 75,483,490 75,518,160 34,671
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