TMCC3 transmembrane and coiled-coil domain family 3

Information
Symbol
TMCC3
Type
protein-coding
Description
transmembrane and coiled-coil domain family 3
Entrez Gene ID
57458
Genome
hg19
Position
chr12:94,960,898-95,044,333
Genome
hg38
Position
chr12:94,567,122-94,650,557
MIM
617459 OMIM
HGNC
HGNC:29199 HGNC
Ensembl
ENSG00000057704 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
not provided 1 0
Uncertain significance 0 60
Ranking
ClinVar
0
0
0
62
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
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
MIM 617459 OMIM
HGNC HGNC:29199 HGNC
Ensembl ENSG00000057704 Ensembl
AllianceGenome HGNC:29199
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000551457.1 hg38 chr12 94,568,569 94,616,061 47,493
ENST00000261226.9 hg38 chr12 94,567,122 94,650,557 83,436
ENST00000261226.9 hg19 chr12 94,960,898 95,044,333 83,436
ENST00000551457.1 hg19 chr12 94,962,345 95,009,837 47,493
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