KMT5A lysine methyltransferase 5A

Information
Symbol
KMT5A
Type
protein-coding
Description
lysine methyltransferase 5A
Entrez Gene ID
387893
Genome
hg19
Position
chr12:123,868,679-123,893,900
Genome
hg38
Position
chr12:123,384,132-123,409,353
MIM
607240 OMIM
HGNC
HGNC:29489 HGNC
Ensembl
ENSG00000183955 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 4
Ranking
ClinVar
0
0
0
2
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 PR-Set7
SYNONYM PR/SET07
SYNONYM SET07
SYNONYM SET8
SYNONYM SETD8
MIM 607240 OMIM
HGNC HGNC:29489 HGNC
Ensembl ENSG00000183955 Ensembl
AllianceGenome HGNC:29489
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000402868.8 hg38 chr12 123,384,132 123,409,353 25,222
ENST00000402868.8 hg19 chr12 123,868,679 123,893,900 25,222
Genome browser