RAX retina and anterior neural fold homeobox

Information
Symbol
RAX
Type
protein-coding
Description
retina and anterior neural fold homeobox
Entrez Gene ID
30062
Genome
hg19
Position
chr18:56,934,270-56,940,686
Genome
hg38
Position
chr18:59,267,038-59,273,454
MIM
601881 OMIM
HGNC
HGNC:18662 HGNC
Ensembl
ENSG00000134438 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 4
Benign 0 28
Likely benign 0 76
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 194
Ranking
ClinVar
0
0
30
264
14
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 MCOP3
SYNONYM MCOPS16
SYNONYM RAX1
SYNONYM RX
MIM 601881 OMIM
HGNC HGNC:18662 HGNC
Ensembl ENSG00000134438 Ensembl
AllianceGenome HGNC:18662
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000256852.7 hg38 chr18 59,267,035 59,273,385 6,351
ENST00000334889.4 hg38 chr18 59,267,038 59,273,454 6,417
ENST00000256852.7 hg19 chr18 56,934,267 56,940,617 6,351
ENST00000334889.4 hg19 chr18 56,934,270 56,940,686 6,417
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