NLRP5 NLR family pyrin domain containing 5
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 12 |
Likely pathogenic | 0 | 6 |
Benign | 0 | 78 |
Likely benign | 0 | 148 |
Conflicting classifications of pathogenicity | 0 | 2 |
not provided | 0 | 46 |
Uncertain significance | 0 | 160 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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54 |
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306 |
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22 |
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
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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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 | CLR19.8 |
SYNONYM | MATER |
SYNONYM | NALP5 |
SYNONYM | OZEMA19 |
SYNONYM | PAN11 |
SYNONYM | PYPAF8 |
MIM | 609658 OMIM |
HGNC | HGNC:21269 HGNC |
Ensembl | ENSG00000171487 Ensembl |
AllianceGenome | HGNC:21269 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000390649.8 | hg38 | chr19 | 55,999,726 | 56,061,810 | 62,085 |
ENST00000390649.8 | hg19 | chr19 | 56,511,092 | 56,573,176 | 62,085 |
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