CARD14 caspase recruitment domain family member 14

Information
Symbol
CARD14
Type
protein-coding
Description
caspase recruitment domain family member 14
Entrez Gene ID
79092
Genome
hg19
Position
chr17:78,144,076-78,183,130
Genome
hg38
Position
chr17:80,170,277-80,209,331
MIM
607211 OMIM
HGNC
HGNC:16446 HGNC
Ensembl
ENSG00000141527 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 20
Likely pathogenic 0 4
Benign 0 256
Likely benign 0 768
Benign; association 0 4
Conflicting classifications of pathogenicity 0 106
not provided 0 2
Uncertain significance 0 1,162
Ranking
ClinVar
0
0
368
1,764
14
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
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM BIMP2
SYNONYM CARMA2
SYNONYM PRP
SYNONYM PSORS2
SYNONYM PSS1
MIM 607211 OMIM
HGNC HGNC:16446 HGNC
Ensembl ENSG00000141527 Ensembl
AllianceGenome HGNC:16446
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000573882.5 hg38 chr17 80,170,012 80,209,331 39,320
ENST00000344227.6 hg38 chr17 80,178,508 80,209,309 30,802
ENST00000648509.2 hg38 chr17 80,170,030 80,209,331 39,302
ENST00000570421.5 hg38 chr17 80,178,499 80,202,631 24,133
ENST00000651672.1 hg38 chr17 80,170,055 80,209,330 39,276
ENST00000571427.2 hg38 chr17 80,170,277 80,209,331 39,055
ENST00000573882.5 hg19 chr17 78,143,811 78,183,130 39,320
ENST00000648509.2 hg19 chr17 78,143,829 78,183,130 39,302
ENST00000571427.2 hg19 chr17 78,144,076 78,183,130 39,055
ENST00000651672.1 hg19 chr17 78,143,854 78,183,129 39,276
ENST00000344227.6 hg19 chr17 78,152,307 78,183,108 30,802
ENST00000570421.5 hg19 chr17 78,152,298 78,176,430 24,133
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