AQP1 aquaporin 1 (Colton blood group)

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: AQP1
Type: protein-coding
Description: aquaporin 1 (Colton blood group)
Entrez Gene ID: 358
Genome: hg19
Position: chr7:30,951,468-30,965,131
Genome: hg38
Position: chr7:30,911,853-30,925,516
MIM: 107776 OMIM
HGNC: HGNC:633 HGNC
Ensembl: ENSG00000240583 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	2
Benign	0	36
Likely benign	0	26
Uncertain significance	0	30

Ranking

	ClinVar
	0
	0
	8
	80
	2

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
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	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
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	AQP-CHIP
SYNONYM	CHIP28
SYNONYM	CO
MIM	107776 OMIM
HGNC	HGNC:633 HGNC
Ensembl	ENSG00000240583 Ensembl
AllianceGenome	HGNC:633

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000652696.1	hg38	chr7	30,911,853	30,925,501	13,649
ENST00000409899.5	hg38	chr7	30,921,434	30,924,021	2,588
ENST00000409611.1	hg38	chr7	30,921,490	30,923,994	2,505
ENST00000311813.11	hg38	chr7	30,911,853	30,925,516	13,664
ENST00000652696.1	hg19	chr7	30,951,468	30,965,116	13,649
ENST00000311813.11	hg19	chr7	30,951,468	30,965,131	13,664
ENST00000409899.5	hg19	chr7	30,961,049	30,963,636	2,588
ENST00000409611.1	hg19	chr7	30,961,105	30,963,609	2,505

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