RS1 retinoschisin 1

Information
Symbol
RS1
Type
protein-coding
Description
retinoschisin 1
Entrez Gene ID
6247
Genome
hg19
Position
chrX:18,657,808-18,690,228
Genome
hg38
Position
chrX:18,639,688-18,672,108
MIM
300839 OMIM
HGNC
HGNC:10457 HGNC
Ensembl
ENSG00000102104 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 66 284
Likely pathogenic 10 156
Benign 0 102
Likely benign 0 394
Conflicting classifications of pathogenicity 0 36
not provided 7 112
Uncertain significance 0 262
Ranking
ClinVar
0
28
172
908
22
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 RS
SYNONYM XLRS1
MIM 300839 OMIM
HGNC HGNC:10457 HGNC
Ensembl ENSG00000102104 Ensembl
AllianceGenome HGNC:10457
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379984.4 hg38 chrX 18,639,688 18,672,108 32,421
ENST00000379984.4 hg19 chrX 18,657,808 18,690,228 32,421
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