TMEM126B transmembrane protein 126B

Information
Symbol
TMEM126B
Type
protein-coding
Description
transmembrane protein 126B
Entrez Gene ID
55863
Genome
hg19
Position
chr11:85,339,637-85,347,580
Genome
hg38
Position
chr11:85,628,593-85,636,536
MIM
615533 OMIM
HGNC
HGNC:30883 HGNC
Ensembl
ENSG00000171204 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 6
Benign 0 20
Likely benign 0 60
Conflicting classifications of pathogenicity 0 4
not provided 1 0
Uncertain significance 0 66
Ranking
ClinVar
0
0
26
132
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 HT007
SYNONYM MC1DN29
MIM 615533 OMIM
HGNC HGNC:30883 HGNC
Ensembl ENSG00000171204 Ensembl
AllianceGenome HGNC:30883
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000534341.1 hg38 chr11 85,628,602 85,636,536 7,935
ENST00000358867.11 hg38 chr11 85,628,593 85,636,536 7,944
ENST00000393375.5 hg38 chr11 85,628,573 85,636,539 7,967
ENST00000393375.5 hg19 chr11 85,339,617 85,347,583 7,967
ENST00000358867.11 hg19 chr11 85,339,637 85,347,580 7,944
ENST00000534341.1 hg19 chr11 85,339,646 85,347,580 7,935
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