TMC8 transmembrane channel like 8

Information
Symbol
TMC8
Type
protein-coding
Description
transmembrane channel like 8
Entrez Gene ID
147138
Genome
hg19
Position
chr17:76,126,852-76,139,049
Genome
hg38
Position
chr17:78,130,771-78,142,968
MIM
605829 OMIM
HGNC
HGNC:20474 HGNC
Ensembl
ENSG00000167895 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 36
Likely pathogenic 0 18
Benign 0 124
Likely benign 0 442
Conflicting classifications of pathogenicity 0 20
risk factor 0 4
Uncertain significance 0 506
Ranking
ClinVar
0
0
112
1,010
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 EV2
SYNONYM EVER2
SYNONYM EVIN2
MIM 605829 OMIM
HGNC HGNC:20474 HGNC
Ensembl ENSG00000167895 Ensembl
AllianceGenome HGNC:20474
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000589691.1 hg38 chr17 78,130,788 78,142,967 12,180
ENST00000318430.10 hg38 chr17 78,130,771 78,142,968 12,198
ENST00000318430.10 hg19 chr17 76,126,852 76,139,049 12,198
ENST00000589691.1 hg19 chr17 76,126,869 76,139,048 12,180
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