TRPM4 transient receptor potential cation channel subfamily M member 4

Information
Symbol
TRPM4
Type
protein-coding
Description
transient receptor potential cation channel subfamily M member 4
Entrez Gene ID
54795
Genome
hg19
Position
chr19:49,661,049-49,715,093
Genome
hg38
Position
chr19:49,157,792-49,211,836
MIM
606936 OMIM
HGNC
HGNC:17993 HGNC
Ensembl
ENSG00000130529 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 6
Benign 8 204
Likely benign 0 1,076
Conflicting classifications of pathogenicity 0 180
Uncertain significance 0 1,830
Ranking
ClinVar
0
0
940
2,112
12
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 EKVP6
SYNONYM LTrpC4
SYNONYM PFHB1B
SYNONYM TRPM4B
SYNONYM hTRPM4
MIM 606936 OMIM
HGNC HGNC:17993 HGNC
Ensembl ENSG00000130529 Ensembl
AllianceGenome HGNC:17993
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252826.10 hg38 chr19 49,157,792 49,211,836 54,045
ENST00000427978.6 hg38 chr19 49,157,815 49,211,680 53,866
ENST00000599628.5 hg38 chr19 49,157,792 49,159,921 2,130
ENST00000599628.5 hg19 chr19 49,661,049 49,663,178 2,130
ENST00000252826.10 hg19 chr19 49,661,049 49,715,093 54,045
ENST00000427978.6 hg19 chr19 49,661,072 49,714,937 53,866
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