TMBIM6 transmembrane BAX inhibitor motif containing 6

Information
Symbol
TMBIM6
Type
protein-coding
Description
transmembrane BAX inhibitor motif containing 6
Entrez Gene ID
7009
Genome
hg19
Position
chr12:50,135,340-50,158,520
Genome
hg38
Position
chr12:49,741,557-49,764,737
MIM
600748 OMIM
HGNC
HGNC:11723 HGNC
Ensembl
ENSG00000139644 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 28
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 BAXI1
SYNONYM BI-1
SYNONYM TEGT
MIM 600748 OMIM
HGNC HGNC:11723 HGNC
Ensembl ENSG00000139644 Ensembl
AllianceGenome HGNC:11723
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000267115.10 hg38 chr12 49,741,557 49,764,934 23,378
ENST00000549385.5 hg38 chr12 49,741,574 49,764,726 23,153
ENST00000552370.5 hg38 chr12 49,750,620 49,762,948 12,329
ENST00000395006.8 hg38 chr12 49,752,456 49,764,742 12,287
ENST00000423828.5 hg38 chr12 49,741,809 49,764,934 23,126
ENST00000552699.5 hg38 chr12 49,741,557 49,764,737 23,181
ENST00000547798.1 hg38 chr12 49,752,964 49,764,723 11,760
ENST00000395006.8 hg19 chr12 50,146,239 50,158,525 12,287
ENST00000267115.10 hg19 chr12 50,135,340 50,158,717 23,378
ENST00000423828.5 hg19 chr12 50,135,592 50,158,717 23,126
ENST00000549385.5 hg19 chr12 50,135,357 50,158,509 23,153
ENST00000547798.1 hg19 chr12 50,146,747 50,158,506 11,760
ENST00000552370.5 hg19 chr12 50,144,403 50,156,731 12,329
ENST00000552699.5 hg19 chr12 50,135,340 50,158,520 23,181
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