SCN4A sodium voltage-gated channel alpha subunit 4

Information
Symbol
SCN4A
Type
protein-coding
Description
sodium voltage-gated channel alpha subunit 4
Entrez Gene ID
6329
Genome
hg19
Position
chr17:62,015,914-62,050,278
Genome
hg38
Position
chr17:63,938,554-63,972,918
MIM
603967 OMIM
HGNC
HGNC:10591 HGNC
Ensembl
ENSG00000007314 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 11 184
Likely pathogenic 0 122
Benign 22 298
Likely benign 0 1,170
Conflicting classifications of pathogenicity 0 322
no classification for the single variant 0 4
not provided 5 4
Uncertain significance 0 1,976
Ranking
ClinVar
0
0
1,022
2,540
54
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 CMS16
SYNONYM CMYP22A
SYNONYM HOKPP2
SYNONYM HYKPP
SYNONYM HYPP
SYNONYM NAC1A
SYNONYM Na(V)1.4
SYNONYM Nav1.4
SYNONYM SkM1
MIM 603967 OMIM
HGNC HGNC:10591 HGNC
Ensembl ENSG00000007314 Ensembl
AllianceGenome HGNC:10591
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000435607.3 hg38 chr17 63,938,554 63,972,918 34,365
ENST00000435607.3 hg19 chr17 62,015,914 62,050,278 34,365
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