OPN1SW opsin 1, short wave sensitive

Information
Symbol
OPN1SW
Type
protein-coding
Description
opsin 1, short wave sensitive
Entrez Gene ID
611
Genome
hg19
Position
chr7:128,412,539-128,415,848
Genome
hg38
Position
chr7:128,772,485-128,775,794
MIM
613522 OMIM
HGNC
HGNC:1012 HGNC
Ensembl
ENSG00000128617 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 6 0
Benign 6 24
Likely benign 0 178
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 330
Ranking
ClinVar
0
0
32
496
0
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 BCP
SYNONYM BOP
SYNONYM CBT
MIM 613522 OMIM
HGNC HGNC:1012 HGNC
Ensembl ENSG00000128617 Ensembl
AllianceGenome HGNC:1012
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000249389.3 hg38 chr7 128,772,485 128,775,794 3,310
ENST00000249389.3 hg19 chr7 128,412,539 128,415,848 3,310
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