AQP12B aquaporin 12B

Information
Symbol
AQP12B
Type
protein-coding
Description
aquaporin 12B
Entrez Gene ID
653437
Genome
hg19
Position
chr2:241,615,835-241,622,302
Genome
hg38
Position
chr2:240,676,418-240,682,885
HGNC
HGNC:6096 HGNC
Ensembl
ENSG00000185176 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
82
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 INSSA3
HGNC HGNC:6096 HGNC
Ensembl ENSG00000185176 Ensembl
AllianceGenome HGNC:6096
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000621682.4 hg38 chr2 240,676,422 240,682,906 6,485
ENST00000407834.4 hg38 chr2 240,676,418 240,682,885 6,468
ENST00000407834.4 hg19 chr2 241,615,835 241,622,302 6,468
ENST00000621682.4 hg19 chr2 241,615,839 241,622,323 6,485
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