TMEM94 transmembrane protein 94

Information
Symbol
TMEM94
Type
protein-coding
Description
transmembrane protein 94
Entrez Gene ID
9772
Genome
hg19
Position
chr17:73,472,579-73,495,825
Genome
hg38
Position
chr17:75,476,498-75,499,744
MIM
618163 OMIM
HGNC
HGNC:28983 HGNC
Ensembl
ENSG00000177728 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 6
Benign 0 14
Likely benign 0 68
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 186
Ranking
ClinVar
0
0
36
246
12
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 ERMA
SYNONYM IDDCDF
SYNONYM KIAA0195
MIM 618163 OMIM
HGNC HGNC:28983 HGNC
Ensembl ENSG00000177728 Ensembl
AllianceGenome HGNC:28983
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375248.9 hg38 chr17 75,476,498 75,499,744 23,247
ENST00000314256.12 hg38 chr17 75,456,635 75,500,452 43,818
ENST00000577247.6 hg38 chr17 75,456,641 75,500,421 43,781
ENST00000577245.2 hg38 chr17 75,456,641 75,500,070 43,430
ENST00000578853.2 hg38 chr17 75,456,641 75,500,421 43,781
ENST00000580918.2 hg38 chr17 75,456,641 75,500,421 43,781
ENST00000705117.1 hg38 chr17 75,456,641 75,500,039 43,399
ENST00000314256.12 hg19 chr17 73,452,716 73,496,533 43,818
ENST00000375248.9 hg19 chr17 73,472,579 73,495,825 23,247
ENST00000577245.2 hg19 chr17 73,452,722 73,496,151 43,430
ENST00000580918.2 hg19 chr17 73,452,722 73,496,502 43,781
ENST00000578853.2 hg19 chr17 73,452,722 73,496,502 43,781
ENST00000577247.6 hg19 chr17 73,452,722 73,496,502 43,781
ENST00000705117.1 hg19 chr17 73,452,722 73,496,120 43,399
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