MBD3L1 methyl-CpG binding domain protein 3 like 1

Information
Symbol
MBD3L1
Type
protein-coding
Description
methyl-CpG binding domain protein 3 like 1
Entrez Gene ID
85509
Genome
hg19
Position
chr19:8,943,053-8,953,995
Genome
hg38
Position
chr19:8,832,377-8,843,319
MIM
607963 OMIM
HGNC
HGNC:15774 HGNC
Ensembl
ENSG00000170948 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
20
0
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 MBD3L
MIM 607963 OMIM
HGNC HGNC:15774 HGNC
Ensembl ENSG00000170948 Ensembl
AllianceGenome HGNC:15774
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000305625.2 hg38 chr19 8,842,593 8,843,340 748
ENST00000595891.2 hg38 chr19 8,832,377 8,843,319 10,943
ENST00000595891.2 hg19 chr19 8,943,053 8,953,995 10,943
ENST00000305625.2 hg19 chr19 8,953,269 8,954,016 748
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