TMEM216 transmembrane protein 216

Information
Symbol
TMEM216
Type
protein-coding
Description
transmembrane protein 216
Entrez Gene ID
51259
Genome
hg19
Position
chr11:61,160,059-61,166,318
Genome
hg38
Position
chr11:61,392,587-61,398,846
MIM
613277 OMIM
HGNC
HGNC:25018 HGNC
Ensembl
ENSG00000187049 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 44
Likely pathogenic 0 66
Benign 0 24
Likely benign 0 240
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 164
Ranking
ClinVar
0
0
86
420
6
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 HSPC244
MIM 613277 OMIM
HGNC HGNC:25018 HGNC
Ensembl ENSG00000187049 Ensembl
AllianceGenome HGNC:25018
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000398979.7 hg38 chr11 61,392,393 61,398,493 6,101
ENST00000334888.10 hg38 chr11 61,392,587 61,398,846 6,260
ENST00000688959.1 hg38 chr11 61,392,613 61,398,744 6,132
ENST00000515837.7 hg38 chr11 61,392,587 61,398,846 6,260
ENST00000398979.7 hg19 chr11 61,159,865 61,165,965 6,101
ENST00000334888.10 hg19 chr11 61,160,059 61,166,318 6,260
ENST00000515837.7 hg19 chr11 61,160,059 61,166,318 6,260
ENST00000688959.1 hg19 chr11 61,160,085 61,166,216 6,132
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