SRPX2 sushi repeat containing protein X-linked 2

Information
Symbol
SRPX2
Type
protein-coding
Description
sushi repeat containing protein X-linked 2
Entrez Gene ID
27286
Genome
hg19
Position
chrX:99,899,196-99,930,785
Genome
hg38
Position
chrX:100,644,199-100,675,788
MIM
300642 OMIM
HGNC
HGNC:30668 HGNC
Ensembl
ENSG00000102359 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 46
Likely benign 0 100
Conflicting classifications of pathogenicity 0 30
not provided 6 0
Uncertain significance 0 158
Ranking
ClinVar
0
0
58
236
4
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 BPP
SYNONYM CBPS
SYNONYM PMGX
SYNONYM RESDX
SYNONYM SRPUL
MIM 300642 OMIM
HGNC HGNC:30668 HGNC
Ensembl ENSG00000102359 Ensembl
AllianceGenome HGNC:30668
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000373004.5 hg38 chrX 100,644,199 100,675,788 31,590
ENST00000373004.5 hg19 chrX 99,899,196 99,930,785 31,590
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