RHO rhodopsin

Information
Symbol
RHO
Type
protein-coding
Description
rhodopsin
Entrez Gene ID
6010
Genome
hg19
Position
chr3:129,247,482-129,254,187
Genome
hg38
Position
chr3:129,528,639-129,535,344
MIM
180380 OMIM
HGNC
HGNC:10012 HGNC
Ensembl
ENSG00000163914 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 234
Likely pathogenic 0 184
Benign 2 64
Likely benign 0 230
Conflicting classifications of pathogenicity 0 80
not provided 0 2
Uncertain significance 0 458
Ranking
ClinVar
0
0
246
798
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 CSNBAD1
SYNONYM OPN2
SYNONYM RP4
MIM 180380 OMIM
HGNC HGNC:10012 HGNC
Ensembl ENSG00000163914 Ensembl
AllianceGenome HGNC:10012
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000296271.4 hg38 chr3 129,528,639 129,535,344 6,706
ENST00000296271.4 hg19 chr3 129,247,482 129,254,187 6,706
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