SMPX small muscle protein X-linked

Information
Symbol
SMPX
Type
protein-coding
Description
small muscle protein X-linked
Entrez Gene ID
23676
Genome
hg19
Position
chrX:21,724,096-21,776,234
Genome
hg38
Position
chrX:21,705,978-21,758,116
MIM
300226 OMIM
HGNC
HGNC:11122 HGNC
Ensembl
ENSG00000091482 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 24
Likely pathogenic 0 12
Benign 0 12
Likely benign 0 30
Conflicting classifications of pathogenicity 0 2
not provided 7 0
Uncertain significance 0 54
Ranking
ClinVar
0
0
8
100
24
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 Chisel
SYNONYM Csl
SYNONYM DFN6
SYNONYM DFNX4
SYNONYM MPD7
MIM 300226 OMIM
HGNC HGNC:11122 HGNC
Ensembl ENSG00000091482 Ensembl
AllianceGenome HGNC:11122
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000646008.1 hg38 chrX 21,727,291 21,758,078 30,788
ENST00000379494.4 hg38 chrX 21,705,978 21,758,116 52,139
ENST00000379494.4 hg19 chrX 21,724,096 21,776,234 52,139
ENST00000646008.1 hg19 chrX 21,745,409 21,776,196 30,788
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