AQP6 aquaporin 6

Information
Symbol
AQP6
Type
protein-coding
Description
aquaporin 6
Entrez Gene ID
363
Genome
hg19
Position
chr12:50,366,730-50,370,922
Genome
hg38
Position
chr12:49,972,947-49,977,139
MIM
601383 OMIM
HGNC
HGNC:639 HGNC
Ensembl
ENSG00000086159 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
46
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 AQP2L
SYNONYM KID
MIM 601383 OMIM
HGNC HGNC:639 HGNC
Ensembl ENSG00000086159 Ensembl
AllianceGenome HGNC:639
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000618286.1 hg38 chr12 49,972,837 49,974,007 1,171
ENST00000315520.10 hg38 chr12 49,972,947 49,977,139 4,193
ENST00000551733.5 hg38 chr12 49,967,239 49,975,695 8,457
ENST00000551733.5 hg19 chr12 50,361,022 50,369,478 8,457
ENST00000618286.1 hg19 chr12 50,366,620 50,367,790 1,171
ENST00000315520.10 hg19 chr12 50,366,730 50,370,922 4,193
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