AQP5 aquaporin 5

Information
Symbol
AQP5
Type
protein-coding
Description
aquaporin 5
Entrez Gene ID
362
Genome
hg19
Position
chr12:50,355,655-50,359,465
Genome
hg38
Position
chr12:49,961,872-49,965,682
MIM
600442 OMIM
HGNC
HGNC:638 HGNC
Ensembl
ENSG00000161798 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Benign 0 42
Likely benign 0 18
Uncertain significance 0 44
Ranking
ClinVar
0
0
8
98
8
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
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 AQP-5
SYNONYM PPKB
MIM 600442 OMIM
HGNC HGNC:638 HGNC
Ensembl ENSG00000161798 Ensembl
AllianceGenome HGNC:638
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000293599.7 hg38 chr12 49,961,872 49,965,682 3,811
ENST00000293599.7 hg19 chr12 50,355,655 50,359,465 3,811
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