PRG4 proteoglycan 4
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 58 |
Likely pathogenic | 0 | 16 |
Benign | 0 | 29 |
Likely benign | 0 | 74 |
Conflicting classifications of pathogenicity | 0 | 4 |
Uncertain significance | 0 | 182 |
Ranking
ClinVar | |
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0 |
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0 |
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16 |
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306 |
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27 |
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
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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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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 |
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Target data | : |
MGeND data only
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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 |
---|---|
SYNONYM | CACP |
SYNONYM | HAPO |
SYNONYM | JCAP |
SYNONYM | MSF |
SYNONYM | SZP |
MIM | 604283 OMIM |
HGNC | HGNC:9364 HGNC |
Ensembl | ENSG00000116690 Ensembl |
AllianceGenome | HGNC:9364 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000445192.7 | hg38 | chr1 | 186,296,279 | 186,314,567 | 18,289 |
ENST00000635041.1 | hg38 | chr1 | 186,296,279 | 186,314,562 | 18,284 |
ENST00000367485.4 | hg38 | chr1 | 186,296,279 | 186,314,562 | 18,284 |
ENST00000367483.8 | hg38 | chr1 | 186,296,279 | 186,314,562 | 18,284 |
ENST00000635041.1 | hg19 | chr1 | 186,265,411 | 186,283,694 | 18,284 |
ENST00000367483.8 | hg19 | chr1 | 186,265,411 | 186,283,694 | 18,284 |
ENST00000367485.4 | hg19 | chr1 | 186,265,411 | 186,283,694 | 18,284 |
ENST00000445192.7 | hg19 | chr1 | 186,265,411 | 186,283,699 | 18,289 |
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