TMIE transmembrane inner ear

Information
Symbol
TMIE
Type
protein-coding
Description
transmembrane inner ear
Entrez Gene ID
259236
Genome
hg19
Position
chr3:46,742,882-46,752,376
Genome
hg38
Position
chr3:46,701,392-46,710,886
MIM
607237 OMIM
HGNC
HGNC:30800 HGNC
Ensembl
ENSG00000181585 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 12
Benign 0 38
Likely benign 0 40
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 92
Ranking
ClinVar
0
0
32
150
8
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 DFNB6
MIM 607237 OMIM
HGNC HGNC:30800 HGNC
Ensembl ENSG00000181585 Ensembl
AllianceGenome HGNC:30800
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000644830.1 hg38 chr3 46,694,528 46,710,853 16,326
ENST00000643606.3 hg38 chr3 46,701,392 46,710,886 9,495
ENST00000644830.1 hg19 chr3 46,736,018 46,752,343 16,326
ENST00000643606.3 hg19 chr3 46,742,882 46,752,376 9,495
Genome browser