AQP4 aquaporin 4

Information
Symbol
AQP4
Type
protein-coding
Description
aquaporin 4
Entrez Gene ID
361
Genome
hg19
Position
chr18:24,432,007-24,445,671
Genome
hg38
Position
chr18:26,852,043-26,865,707
MIM
600308 OMIM
HGNC
HGNC:637 HGNC
Ensembl
ENSG00000171885 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 10
Likely benign 0 8
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
52
4
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 :
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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 MIWC
SYNONYM MLC4
SYNONYM WCH4
SYNONYM hAQP4
MIM 600308 OMIM
HGNC HGNC:637 HGNC
Ensembl ENSG00000171885 Ensembl
AllianceGenome HGNC:637
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000383168.9 hg38 chr18 26,852,043 26,865,707 13,665
ENST00000672188.1 hg38 chr18 26,852,046 26,865,752 13,707
ENST00000581374.5 hg38 chr18 26,855,817 26,862,848 7,032
ENST00000675739.1 hg38 chr18 26,856,211 26,865,689 9,479
ENST00000672981.2 hg38 chr18 26,852,043 26,865,707 13,665
ENST00000440832.7 hg38 chr18 26,856,211 26,863,190 6,980
ENST00000383168.9 hg19 chr18 24,432,007 24,445,671 13,665
ENST00000672981.2 hg19 chr18 24,432,007 24,445,671 13,665
ENST00000672188.1 hg19 chr18 24,432,010 24,445,716 13,707
ENST00000581374.5 hg19 chr18 24,435,781 24,442,812 7,032
ENST00000440832.7 hg19 chr18 24,436,175 24,443,154 6,980
ENST00000675739.1 hg19 chr18 24,436,175 24,445,653 9,479
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