VSX1 visual system homeobox 1

Information
Symbol
VSX1
Type
protein-coding
Description
visual system homeobox 1
Entrez Gene ID
30813
Genome
hg19
Position
chr20:25,056,099-25,062,777
Genome
hg38
Position
chr20:25,075,463-25,082,141
MIM
605020 OMIM
HGNC
HGNC:12723 HGNC
Ensembl
ENSG00000100987 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 12 58
Likely benign 0 46
Conflicting classifications of pathogenicity 0 12
Uncertain significance 0 116
Ranking
ClinVar
0
0
44
158
4
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 CAASDS
SYNONYM KTCN
SYNONYM KTCN1
SYNONYM PPCD
SYNONYM PPCD1
SYNONYM PPD
SYNONYM RINX
MIM 605020 OMIM
HGNC HGNC:12723 HGNC
Ensembl ENSG00000100987 Ensembl
AllianceGenome HGNC:12723
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000444511.6 hg38 chr20 25,071,484 25,082,131 10,648
ENST00000429762.7 hg38 chr20 25,070,885 25,082,131 11,247
ENST00000376709.9 hg38 chr20 25,075,463 25,082,141 6,679
ENST00000376707.4 hg38 chr20 25,078,548 25,082,131 3,584
ENST00000429762.7 hg19 chr20 25,051,521 25,062,767 11,247
ENST00000444511.6 hg19 chr20 25,052,120 25,062,767 10,648
ENST00000376709.9 hg19 chr20 25,056,099 25,062,777 6,679
ENST00000376707.4 hg19 chr20 25,059,184 25,062,767 3,584
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