SCN9A sodium voltage-gated channel alpha subunit 9

Information
Symbol
SCN9A
Type
protein-coding
Description
sodium voltage-gated channel alpha subunit 9
Entrez Gene ID
6335
Genome
hg19
Position
chr2:167,051,695-167,232,454
Genome
hg38
Position
chr2:166,195,185-166,375,944
MIM
603415 OMIM
HGNC
HGNC:10597 HGNC
Ensembl
ENSG00000169432 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 214
Likely pathogenic 0 92
Benign 30 210
Likely benign 0 1,434
Conflicting classifications of pathogenicity 0 300
not provided 1 8
other 1 0
Uncertain significance 2 2,924
Ranking
ClinVar
0
0
754
3,968
38
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 :
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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 ETHA
SYNONYM FEB3B
SYNONYM GEFSP7
SYNONYM HSAN2D
SYNONYM NE-NA
SYNONYM NENA
SYNONYM Nav1.7
SYNONYM PN1
SYNONYM SFNP
MIM 603415 OMIM
HGNC HGNC:10597 HGNC
Ensembl ENSG00000169432 Ensembl
AllianceGenome HGNC:10597
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000454569.6 hg38 chr2 166,277,716 166,375,969 98,254
ENST00000409672.5 hg38 chr2 166,195,185 166,375,993 180,809
ENST00000303354.11 hg38 chr2 166,195,189 166,375,901 180,713
ENST00000642356.2 hg38 chr2 166,195,185 166,375,944 180,760
ENST00000645907.1 hg38 chr2 166,197,462 166,375,901 178,440
ENST00000642356.2 hg19 chr2 167,051,695 167,232,454 180,760
ENST00000409672.5 hg19 chr2 167,051,695 167,232,503 180,809
ENST00000303354.11 hg19 chr2 167,051,699 167,232,411 180,713
ENST00000645907.1 hg19 chr2 167,053,972 167,232,411 178,440
ENST00000454569.6 hg19 chr2 167,134,226 167,232,479 98,254
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