MBD1 methyl-CpG binding domain protein 1

Information
Symbol
MBD1
Type
protein-coding
Description
methyl-CpG binding domain protein 1
Entrez Gene ID
4152
Genome
hg19
Position
chr18:47,795,421-47,807,794
Genome
hg38
Position
chr18:50,269,051-50,281,424
MIM
156535 OMIM
HGNC
HGNC:6916 HGNC
Ensembl
ENSG00000141644 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 14
Likely benign 0 18
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 40
Ranking
ClinVar
0
0
10
60
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 CXXC3
SYNONYM PCM1
SYNONYM RFT
MIM 156535 OMIM
HGNC HGNC:6916 HGNC
Ensembl ENSG00000141644 Ensembl
AllianceGenome HGNC:6916
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000353909.7 hg38 chr18 50,268,841 50,281,476 12,636
ENST00000347968.7 hg38 chr18 50,268,847 50,281,774 12,928
ENST00000382948.9 hg38 chr18 50,267,517 50,281,774 14,258
ENST00000457839.6 hg38 chr18 50,271,050 50,281,466 10,417
ENST00000587605.5 hg38 chr18 50,269,557 50,281,767 12,211
ENST00000590208.5 hg38 chr18 50,269,031 50,281,684 12,654
ENST00000398488.5 hg38 chr18 50,271,501 50,279,992 8,492
ENST00000591535.5 hg38 chr18 50,271,501 50,279,992 8,492
ENST00000585595.5 hg38 chr18 50,269,734 50,281,307 11,574
ENST00000339998.10 hg38 chr18 50,268,847 50,281,476 12,630
ENST00000705655.1 hg38 chr18 50,269,051 50,281,424 12,374
ENST00000591416.5 hg38 chr18 50,268,846 50,281,769 12,924
ENST00000585672.5 hg38 chr18 50,266,882 50,281,459 14,578
ENST00000269468.10 hg38 chr18 50,268,846 50,281,523 12,678
ENST00000588937.5 hg38 chr18 50,269,629 50,279,992 10,364
ENST00000269471.9 hg38 chr18 50,268,847 50,281,774 12,928
ENST00000398495.6 hg38 chr18 50,271,042 50,280,010 8,969
ENST00000398493.5 hg38 chr18 50,271,469 50,281,500 10,032
ENST00000585672.5 hg19 chr18 47,793,252 47,807,829 14,578
ENST00000382948.9 hg19 chr18 47,793,887 47,808,144 14,258
ENST00000353909.7 hg19 chr18 47,795,211 47,807,846 12,636
ENST00000269468.10 hg19 chr18 47,795,216 47,807,893 12,678
ENST00000339998.10 hg19 chr18 47,795,217 47,807,846 12,630
ENST00000269471.9 hg19 chr18 47,795,217 47,808,144 12,928
ENST00000347968.7 hg19 chr18 47,795,217 47,808,144 12,928
ENST00000587605.5 hg19 chr18 47,795,927 47,808,137 12,211
ENST00000398488.5 hg19 chr18 47,797,871 47,806,362 8,492
ENST00000398493.5 hg19 chr18 47,797,839 47,807,870 10,032
ENST00000398495.6 hg19 chr18 47,797,412 47,806,380 8,969
ENST00000457839.6 hg19 chr18 47,797,420 47,807,836 10,417
ENST00000585595.5 hg19 chr18 47,796,104 47,807,677 11,574
ENST00000588937.5 hg19 chr18 47,795,999 47,806,362 10,364
ENST00000590208.5 hg19 chr18 47,795,401 47,808,054 12,654
ENST00000591416.5 hg19 chr18 47,795,216 47,808,139 12,924
ENST00000591535.5 hg19 chr18 47,797,871 47,806,362 8,492
ENST00000705655.1 hg19 chr18 47,795,421 47,807,794 12,374
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