CA5B carbonic anhydrase 5B

Information
Symbol
CA5B
Type
protein-coding
Description
carbonic anhydrase 5B
Entrez Gene ID
11238
Genome
hg19
Position
chrX:15,756,393-15,806,534
Genome
hg38
Position
chrX:15,738,270-15,788,411
MIM
300230 OMIM
HGNC
HGNC:1378 HGNC
Ensembl
ENSG00000169239 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 8 0
Uncertain significance 0 40
Ranking
ClinVar
0
0
0
44
0
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 CA-VB
SYNONYM CAVB
MIM 300230 OMIM
HGNC HGNC:1378 HGNC
Ensembl ENSG00000169239 Ensembl
AllianceGenome HGNC:1378
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000318636.8 hg38 chrX 15,738,270 15,788,411 50,142
ENST00000318636.8 hg19 chrX 15,756,393 15,806,534 50,142
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