AQP12A aquaporin 12A

Information
Symbol
AQP12A
Type
protein-coding
Description
aquaporin 12A
Entrez Gene ID
375318
Genome
hg19
Position
chr2:241,631,283-241,637,900
Genome
hg38
Position
chr2:240,691,866-240,698,483
MIM
609789 OMIM
HGNC
HGNC:19941 HGNC
Ensembl
ENSG00000184945 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
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-12
SYNONYM AQP12
SYNONYM AQPX2
MIM 609789 OMIM
HGNC HGNC:19941 HGNC
Ensembl ENSG00000184945 Ensembl
AllianceGenome HGNC:19941
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000337801.9 hg38 chr2 240,691,866 240,698,483 6,618
ENST00000337801.9 hg19 chr2 241,631,283 241,637,900 6,618
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