CRX cone-rod homeobox

Information
Symbol
CRX
Type
protein-coding
Description
cone-rod homeobox
Entrez Gene ID
1406
Genome
hg19
Position
chr19:48,325,194-48,346,581
Genome
hg38
Position
chr19:47,821,937-47,843,324
MIM
602225 OMIM
HGNC
HGNC:2383 HGNC
Ensembl
ENSG00000105392 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 118
Likely pathogenic 0 68
Benign 4 140
Likely benign 0 208
Conflicting classifications of pathogenicity 0 68
not provided 0 22
Uncertain significance 0 424
Ranking
ClinVar
0
0
104
752
40
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 CORD2
SYNONYM CRD
SYNONYM LCA7
SYNONYM OTX3
MIM 602225 OMIM
HGNC HGNC:2383 HGNC
Ensembl ENSG00000105392 Ensembl
AllianceGenome HGNC:2383
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000613299.1 hg38 chr19 47,821,964 47,843,330 21,367
ENST00000221996.12 hg38 chr19 47,821,937 47,843,324 21,388
ENST00000221996.12 hg19 chr19 48,325,194 48,346,581 21,388
ENST00000613299.1 hg19 chr19 48,325,221 48,346,587 21,367
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