L3MBTL3 L3MBTL histone methyl-lysine binding protein 3

Information
Symbol
L3MBTL3
Type
protein-coding
Description
L3MBTL histone methyl-lysine binding protein 3
Entrez Gene ID
84456
Genome
hg19
Position
chr6:130,341,702-130,462,594
Genome
hg38
Position
chr6:130,020,557-130,141,449
MIM
618844 OMIM
HGNC
HGNC:23035 HGNC
Ensembl
ENSG00000198945 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 4
Uncertain significance 0 78
Ranking
ClinVar
0
0
0
86
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 :
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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 MBT-1
SYNONYM MBT1
MIM 618844 OMIM
HGNC HGNC:23035 HGNC
Ensembl ENSG00000198945 Ensembl
AllianceGenome HGNC:23035
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533560.5 hg38 chr6 130,018,589 130,140,480 121,892
ENST00000526019.5 hg38 chr6 130,020,520 130,140,485 119,966
ENST00000361794.7 hg38 chr6 130,018,581 130,141,438 122,858
ENST00000368136.3 hg38 chr6 130,020,557 130,141,449 120,893
ENST00000368139.6 hg38 chr6 130,020,491 130,141,440 120,950
ENST00000361794.7 hg19 chr6 130,339,726 130,462,583 122,858
ENST00000533560.5 hg19 chr6 130,339,734 130,461,625 121,892
ENST00000368139.6 hg19 chr6 130,341,636 130,462,585 120,950
ENST00000526019.5 hg19 chr6 130,341,665 130,461,630 119,966
ENST00000368136.3 hg19 chr6 130,341,702 130,462,594 120,893
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