MBTD1 mbt domain containing 1

Information
Symbol
MBTD1
Type
protein-coding
Description
mbt domain containing 1
Entrez Gene ID
54799
Genome
hg19
Position
chr17:49,254,786-49,337,410
Genome
hg38
Position
chr17:51,177,425-51,260,049
MIM
618705 OMIM
HGNC
HGNC:19866 HGNC
Ensembl
ENSG00000011258 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
30
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 SA49P01
MIM 618705 OMIM
HGNC HGNC:19866 HGNC
Ensembl ENSG00000011258 Ensembl
AllianceGenome HGNC:19866
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000415868.5 hg38 chr17 51,177,427 51,225,224 47,798
ENST00000586178.6 hg38 chr17 51,177,425 51,260,049 82,625
ENST00000376381.3 hg38 chr17 51,192,657 51,209,404 16,748
ENST00000586178.6 hg19 chr17 49,254,786 49,337,410 82,625
ENST00000415868.5 hg19 chr17 49,254,788 49,302,585 47,798
ENST00000376381.3 hg19 chr17 49,270,018 49,286,765 16,748
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