TMEM230 transmembrane protein 230

Information
Symbol
TMEM230
Type
protein-coding
Description
transmembrane protein 230
Entrez Gene ID
29058
Genome
hg19
Position
chr20:5,049,129-5,093,733
Genome
hg38
Position
chr20:5,068,483-5,113,087
MIM
617019 OMIM
HGNC
HGNC:15876 HGNC
Ensembl
ENSG00000089063 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 24
Likely benign 0 38
Uncertain significance 0 46
Ranking
ClinVar
0
0
8
100
2
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 C20orf30
SYNONYM HSPC274
SYNONYM dJ1116H23.2.1
MIM 617019 OMIM
HGNC HGNC:15876 HGNC
Ensembl ENSG00000089063 Ensembl
AllianceGenome HGNC:15876
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342308.11 hg38 chr20 5,099,850 5,113,076 13,227
ENST00000615008.4 hg38 chr20 5,068,232 5,112,790 44,559
ENST00000612323.4 hg38 chr20 5,068,483 5,113,087 44,605
ENST00000379283.6 hg38 chr20 5,099,840 5,113,050 13,211
ENST00000379286.6 hg38 chr20 5,099,840 5,113,042 13,203
ENST00000379277.7 hg38 chr20 5,099,840 5,113,076 13,237
ENST00000379279.6 hg38 chr20 5,099,840 5,113,049 13,210
ENST00000202834.12 hg38 chr20 5,099,850 5,113,076 13,227
ENST00000615008.4 hg19 chr20 5,048,878 5,093,436 44,559
ENST00000612323.4 hg19 chr20 5,049,129 5,093,733 44,605
ENST00000379286.6 hg19 chr20 5,080,486 5,093,688 13,203
ENST00000379279.6 hg19 chr20 5,080,486 5,093,695 13,210
ENST00000379283.6 hg19 chr20 5,080,486 5,093,696 13,211
ENST00000379277.7 hg19 chr20 5,080,486 5,093,722 13,237
ENST00000202834.12 hg19 chr20 5,080,496 5,093,722 13,227
ENST00000342308.11 hg19 chr20 5,080,496 5,093,722 13,227
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