SSR4 signal sequence receptor subunit 4

Information
Symbol
SSR4
Type
protein-coding
Description
signal sequence receptor subunit 4
Entrez Gene ID
6748
Genome
hg19
Position
chrX:153,058,971-153,063,953
Genome
hg38
Position
chrX:153,793,516-153,798,498
MIM
300090 OMIM
HGNC
HGNC:11326 HGNC
Ensembl
ENSG00000180879 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 4
Benign 0 26
Likely benign 0 68
Conflicting classifications of pathogenicity 0 4
not provided 6 0
Uncertain significance 0 70
Ranking
ClinVar
0
0
22
146
10
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 CDG1Y
SYNONYM TRAPD
MIM 300090 OMIM
HGNC HGNC:11326 HGNC
Ensembl ENSG00000180879 Ensembl
AllianceGenome HGNC:11326
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000320857.7 hg38 chrX 153,793,516 153,798,498 4,983
ENST00000370085.3 hg38 chrX 153,794,674 153,798,498 3,825
ENST00000370086.8 hg38 chrX 153,794,668 153,798,499 3,832
ENST00000370087.5 hg38 chrX 153,794,191 153,798,498 4,308
ENST00000320857.7 hg19 chrX 153,058,971 153,063,953 4,983
ENST00000370087.5 hg19 chrX 153,059,646 153,063,953 4,308
ENST00000370086.8 hg19 chrX 153,060,123 153,063,954 3,832
ENST00000370085.3 hg19 chrX 153,060,129 153,063,953 3,825
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