TMEM199 transmembrane protein 199

Information
Symbol
TMEM199
Type
protein-coding
Description
transmembrane protein 199
Entrez Gene ID
147007
Genome
hg19
Position
chr17:26,684,670-26,690,705
Genome
hg38
Position
chr17:28,357,647-28,363,683
MIM
616815 OMIM
HGNC
HGNC:18085 HGNC
Ensembl
ENSG00000244045 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 6
Benign 0 26
Likely benign 0 38
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 68
Ranking
ClinVar
0
0
24
112
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
[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 C17orf32
SYNONYM CDG2P
SYNONYM VMA12
SYNONYM VPH2
MIM 616815 OMIM
HGNC HGNC:18085 HGNC
Ensembl ENSG00000244045 Ensembl
AllianceGenome HGNC:18085
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000395404.7 hg38 chr17 28,358,043 28,361,455 3,413
ENST00000292114.8 hg38 chr17 28,357,647 28,363,683 6,037
ENST00000292114.8 hg19 chr17 26,684,670 26,690,705 6,036
ENST00000395404.7 hg19 chr17 26,685,066 26,688,477 3,412
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