CA4 carbonic anhydrase 4

Information
Symbol
CA4
Type
protein-coding
Description
carbonic anhydrase 4
Entrez Gene ID
762
Genome
hg19
Position
chr17:58,227,334-58,236,907
Genome
hg38
Position
chr17:60,149,973-60,159,546
MIM
114760 OMIM
HGNC
HGNC:1375 HGNC
Ensembl
ENSG00000167434 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 4
Likely pathogenic 0 20
Benign 6 40
Likely benign 0 218
Conflicting classifications of pathogenicity 0 30
Uncertain significance 0 288
Ranking
ClinVar
0
0
64
486
4
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 CAIV
SYNONYM Car4
SYNONYM RP17
MIM 114760 OMIM
HGNC HGNC:1375 HGNC
Ensembl ENSG00000167434 Ensembl
AllianceGenome HGNC:1375
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000300900.9 hg38 chr17 60,149,973 60,159,546 9,574
ENST00000300900.9 hg19 chr17 58,227,334 58,236,907 9,574
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