TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4

Information
Symbol
TMTC4
Type
protein-coding
Description
transmembrane O-mannosyltransferase targeting cadherins 4
Entrez Gene ID
84899
Genome
hg19
Position
chr13:101,255,879-101,327,049
Genome
hg38
Position
chr13:100,603,625-100,674,795
MIM
618203 OMIM
HGNC
HGNC:25904 HGNC
Ensembl
ENSG00000125247 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely benign 0 10
Uncertain significance 0 122
Ranking
ClinVar
0
0
0
130
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 :
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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 DFNB122
MIM 618203 OMIM
HGNC HGNC:25904 HGNC
Ensembl ENSG00000125247 Ensembl
AllianceGenome HGNC:25904
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342624.10 hg38 chr13 100,603,625 100,674,795 71,171
ENST00000328767.9 hg38 chr13 100,604,871 100,674,774 69,904
ENST00000376234.7 hg38 chr13 100,603,927 100,674,879 70,953
ENST00000342624.10 hg19 chr13 101,255,879 101,327,049 71,171
ENST00000376234.7 hg19 chr13 101,256,181 101,327,133 70,953
ENST00000328767.9 hg19 chr13 101,257,125 101,327,028 69,904
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