UNC119 unc-119 lipid binding chaperone
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 4 | 30 |
Likely benign | 0 | 130 |
Conflicting classifications of pathogenicity | 0 | 16 |
Uncertain significance | 0 | 252 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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56 |
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350 |
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2 |
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 |
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Target data | : |
MGeND data only
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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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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 |
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SYNONYM | CORD24 |
SYNONYM | HRG4 |
SYNONYM | IMD13 |
SYNONYM | POC7 |
SYNONYM | POC7A |
MIM | 604011 OMIM |
HGNC | HGNC:12565 HGNC |
Ensembl | ENSG00000109103 Ensembl |
AllianceGenome | HGNC:12565 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000484980.5 | hg38 | chr17 | 28,546,708 | 28,551,802 | 5,095 |
ENST00000335765.9 | hg38 | chr17 | 28,546,708 | 28,552,624 | 5,917 |
ENST00000301032.8 | hg38 | chr17 | 28,546,708 | 28,552,631 | 5,924 |
ENST00000470125.5 | hg38 | chr17 | 28,546,711 | 28,549,399 | 2,689 |
ENST00000484980.5 | hg19 | chr17 | 26,873,726 | 26,878,820 | 5,095 |
ENST00000335765.9 | hg19 | chr17 | 26,873,726 | 26,879,642 | 5,917 |
ENST00000301032.8 | hg19 | chr17 | 26,873,726 | 26,879,649 | 5,924 |
ENST00000470125.5 | hg19 | chr17 | 26,873,729 | 26,876,417 | 2,689 |
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