TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3

Information
Symbol
TMTC3
Type
protein-coding
Description
transmembrane O-mannosyltransferase targeting cadherins 3
Entrez Gene ID
160418
Genome
hg19
Position
chr12:88,536,084-88,593,664
Genome
hg38
Position
chr12:88,142,307-88,199,887
MIM
617218 OMIM
HGNC
HGNC:26899 HGNC
Ensembl
ENSG00000139324 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 10
Benign 0 39
Likely benign 0 134
Conflicting classifications of pathogenicity 0 2
not provided 1 0
Uncertain significance 0 175
Ranking
ClinVar
0
0
48
310
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
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 LIS8
SYNONYM SMILE
MIM 617218 OMIM
HGNC HGNC:26899 HGNC
Ensembl ENSG00000139324 Ensembl
AllianceGenome HGNC:26899
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000266712.11 hg38 chr12 88,142,307 88,199,887 57,581
ENST00000266712.11 hg19 chr12 88,536,084 88,593,664 57,581
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