AQP8 aquaporin 8

Information
Symbol
AQP8
Type
protein-coding
Description
aquaporin 8
Entrez Gene ID
343
Genome
hg19
Position
chr16:25,228,268-25,240,253
Genome
hg38
Position
chr16:25,216,947-25,228,932
MIM
603750 OMIM
HGNC
HGNC:642 HGNC
Ensembl
ENSG00000103375 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 4
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
40
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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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-8
MIM 603750 OMIM
HGNC HGNC:642 HGNC
Ensembl ENSG00000103375 Ensembl
AllianceGenome HGNC:642
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000219660.6 hg38 chr16 25,216,947 25,228,932 11,986
ENST00000566125.5 hg38 chr16 25,215,731 25,228,932 13,202
ENST00000566125.5 hg19 chr16 25,227,052 25,240,253 13,202
ENST00000219660.6 hg19 chr16 25,228,268 25,240,253 11,986
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