CRX cone-rod homeobox
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 | |
---|---|
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0 |
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0 |
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104 |
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752 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | CORD2 |
SYNONYM | CRD |
SYNONYM | LCA7 |
SYNONYM | OTX3 |
MIM | 602225 OMIM |
HGNC | HGNC:2383 HGNC |
Ensembl | ENSG00000105392 Ensembl |
AllianceGenome | HGNC:2383 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
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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