NLRC4 NLR family CARD domain containing 4
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 2 | 12 |
Likely pathogenic | 0 | 14 |
Benign | 0 | 72 |
Likely benign | 0 | 422 |
Conflicting classifications of pathogenicity | 0 | 58 |
not provided | 0 | 22 |
Uncertain significance | 0 | 866 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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174 |
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1,186 |
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6 |
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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Category | : |
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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 | AIFEC |
SYNONYM | CARD12 |
SYNONYM | CLAN |
SYNONYM | CLAN1 |
SYNONYM | CLANA |
SYNONYM | CLANB |
SYNONYM | CLANC |
SYNONYM | CLAND |
SYNONYM | CLR2.1 |
SYNONYM | FCAS4 |
SYNONYM | IPAF |
MIM | 606831 OMIM |
HGNC | HGNC:16412 HGNC |
Ensembl | ENSG00000091106 Ensembl |
AllianceGenome | HGNC:16412 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000360906.9 | hg38 | chr2 | 32,224,453 | 32,265,732 | 41,280 |
ENST00000402280.6 | hg38 | chr2 | 32,224,453 | 32,264,886 | 40,434 |
ENST00000652197.2 | hg38 | chr2 | 32,224,453 | 32,258,182 | 33,730 |
ENST00000342905.10 | hg38 | chr2 | 32,224,455 | 32,265,732 | 41,278 |
ENST00000652197.2 | hg19 | chr2 | 32,449,522 | 32,483,251 | 33,730 |
ENST00000402280.6 | hg19 | chr2 | 32,449,522 | 32,489,955 | 40,434 |
ENST00000360906.9 | hg19 | chr2 | 32,449,522 | 32,490,801 | 41,280 |
ENST00000342905.10 | hg19 | chr2 | 32,449,524 | 32,490,801 | 41,278 |
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