AQP10 aquaporin 10
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 2 |
Uncertain significance | 0 | 14 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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18 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | AQPA_HUMAN |
MIM | 606578 OMIM |
HGNC | HGNC:16029 HGNC |
Ensembl | ENSG00000143595 Ensembl |
AllianceGenome | HGNC:16029 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000484864.1 | hg38 | chr1 | 154,321,120 | 154,325,325 | 4,206 |
ENST00000324978.8 | hg38 | chr1 | 154,321,093 | 154,325,325 | 4,233 |
ENST00000324978.8 | hg19 | chr1 | 154,293,569 | 154,297,801 | 4,233 |
ENST00000484864.1 | hg19 | chr1 | 154,293,596 | 154,297,801 | 4,206 |
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