TMEM123 transmembrane protein 123

Information
Symbol
TMEM123
Type
protein-coding
Description
transmembrane protein 123
Entrez Gene ID
114908
Genome
hg19
Position
chr11:102,267,063-102,323,496
Genome
hg38
Position
chr11:102,396,332-102,452,765
MIM
606356 OMIM
HGNC
HGNC:30138 HGNC
Ensembl
ENSG00000152558 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
22
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 KCT3
SYNONYM PORIMIN
SYNONYM PORMIN
MIM 606356 OMIM
HGNC HGNC:30138 HGNC
Ensembl ENSG00000152558 Ensembl
AllianceGenome HGNC:30138
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000398136.7 hg38 chr11 102,396,332 102,452,765 56,434
ENST00000532161.5 hg38 chr11 102,398,824 102,452,366 53,543
ENST00000361236.7 hg38 chr11 102,396,332 102,452,839 56,508
ENST00000398136.7 hg19 chr11 102,267,063 102,323,496 56,434
ENST00000361236.7 hg19 chr11 102,267,063 102,323,570 56,508
ENST00000532161.5 hg19 chr11 102,269,555 102,323,097 53,543
Genome browser