TMEM43 transmembrane protein 43

Information
Symbol
TMEM43
Type
protein-coding
Description
transmembrane protein 43
Entrez Gene ID
79188
Genome
hg19
Position
chr3:14,166,552-14,185,180
Genome
hg38
Position
chr3:14,125,052-14,143,680
MIM
612048 OMIM
HGNC
HGNC:28472 HGNC
Ensembl
ENSG00000170876 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 4
Likely pathogenic 0 4
Benign 10 152
Likely benign 0 642
Conflicting classifications of pathogenicity 0 162
Uncertain significance 0 984
Ranking
ClinVar
0
0
658
1,050
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
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 ARVC5
SYNONYM ARVD5
SYNONYM AUNA3
SYNONYM EDMD7
SYNONYM EDMD7; AUNA2
SYNONYM LUMA
MIM 612048 OMIM
HGNC HGNC:28472 HGNC
Ensembl ENSG00000170876 Ensembl
AllianceGenome HGNC:28472
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000306077.5 hg38 chr3 14,125,052 14,143,680 18,629
ENST00000306077.5 hg19 chr3 14,166,552 14,185,180 18,629
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