DNMT3B DNA methyltransferase 3 beta

Information
Symbol
DNMT3B
Type
protein-coding
Description
DNA methyltransferase 3 beta
Entrez Gene ID
1789
Genome
hg19
Position
chr20:31,350,191-31,397,162
Genome
hg38
Position
chr20:32,762,385-32,809,356
MIM
602900 OMIM
HGNC
HGNC:2979 HGNC
Ensembl
ENSG00000088305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 7 44
Likely pathogenic 0 28
Benign 0 72
Likely benign 0 884
Conflicting classifications of pathogenicity 0 76
not provided 11 0
Uncertain significance 3 574
Ranking
ClinVar
0
0
142
1,428
14
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 FSHD4
SYNONYM ICF
SYNONYM ICF1
SYNONYM M.HsaIIIB
MIM 602900 OMIM
HGNC HGNC:2979 HGNC
Ensembl ENSG00000088305 Ensembl
AllianceGenome HGNC:2979
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000353855.6 hg38 chr20 32,762,424 32,809,356 46,933
ENST00000456297.6 hg38 chr20 32,762,642 32,808,069 45,428
ENST00000328111.6 hg38 chr20 32,762,385 32,809,356 46,972
ENST00000201963.3 hg38 chr20 32,779,852 32,809,356 29,505
ENST00000696239.1 hg38 chr20 32,780,324 32,807,903 27,580
ENST00000696232.1 hg38 chr20 32,762,385 32,809,359 46,975
ENST00000443239.7 hg38 chr20 32,762,596 32,808,280 45,685
ENST00000348286.6 hg38 chr20 32,762,424 32,809,356 46,933
ENST00000328111.6 hg19 chr20 31,350,191 31,397,162 46,972
ENST00000696232.1 hg19 chr20 31,350,191 31,397,165 46,975
ENST00000348286.6 hg19 chr20 31,350,230 31,397,162 46,933
ENST00000353855.6 hg19 chr20 31,350,230 31,397,162 46,933
ENST00000443239.7 hg19 chr20 31,350,402 31,396,086 45,685
ENST00000456297.6 hg19 chr20 31,350,448 31,395,875 45,428
ENST00000201963.3 hg19 chr20 31,367,658 31,397,162 29,505
ENST00000696239.1 hg19 chr20 31,368,130 31,395,709 27,580
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