TMBIM1 transmembrane BAX inhibitor motif containing 1

Information
Symbol
TMBIM1
Type
protein-coding
Description
transmembrane BAX inhibitor motif containing 1
Entrez Gene ID
64114
Genome
hg19
Position
chr2:219,138,924-219,151,572
Genome
hg38
Position
chr2:218,274,201-218,286,849
MIM
610364 OMIM
HGNC
HGNC:23410 HGNC
Ensembl
ENSG00000135926 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 8
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
2
38
2
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 :
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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 LFG3
SYNONYM MST100
SYNONYM MSTP100
SYNONYM PP1201
SYNONYM RECS1
MIM 610364 OMIM
HGNC HGNC:23410 HGNC
Ensembl ENSG00000135926 Ensembl
AllianceGenome HGNC:23410
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000445635.5 hg38 chr2 218,275,006 218,292,513 17,508
ENST00000396809.6 hg38 chr2 218,274,201 218,285,934 11,734
ENST00000258412.8 hg38 chr2 218,274,197 218,292,503 18,307
ENST00000444881.5 hg38 chr2 218,274,201 218,286,849 12,649
ENST00000258412.8 hg19 chr2 219,138,920 219,157,226 18,307
ENST00000396809.6 hg19 chr2 219,138,924 219,150,657 11,734
ENST00000444881.5 hg19 chr2 219,138,924 219,151,572 12,649
ENST00000445635.5 hg19 chr2 219,139,729 219,157,236 17,508
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