PANX1 pannexin 1
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Benign | 0 | 34 |
Likely benign | 0 | 24 |
Uncertain significance | 0 | 52 |
Ranking
ClinVar | |
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0 |
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0 |
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10 |
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94 |
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12 |
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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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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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 |
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SYNONYM | MRS1 |
SYNONYM | OOMD7 |
SYNONYM | OZEMA7 |
SYNONYM | PX1 |
SYNONYM | UNQ2529 |
MIM | 608420 OMIM |
HGNC | HGNC:8599 HGNC |
Ensembl | ENSG00000110218 Ensembl |
AllianceGenome | HGNC:8599 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000436171.2 | hg38 | chr11 | 94,128,929 | 94,181,966 | 53,038 |
ENST00000227638.8 | hg38 | chr11 | 94,128,841 | 94,181,968 | 53,128 |
ENST00000227638.8 | hg19 | chr11 | 93,862,007 | 93,915,134 | 53,128 |
ENST00000436171.2 | hg19 | chr11 | 93,862,095 | 93,915,132 | 53,038 |
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