AKR1A1 aldo-keto reductase family 1 member A1

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Clinical Significance
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Information

Symbol: AKR1A1
Type: protein-coding
Description: aldo-keto reductase family 1 member A1
Entrez Gene ID: 10327
Genome: hg19
Position: chr1:46,016,215-46,035,721
Genome: hg38
Position: chr1:45,550,543-45,570,049
MIM: 103830 OMIM
HGNC: HGNC:380 HGNC
Ensembl: ENSG00000117448 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	4
Likely benign	0	4
Uncertain significance	0	26

Ranking

	ClinVar
	0
	0
	0
	34
	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
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	ALDR1
SYNONYM	ALR
SYNONYM	ARM
SYNONYM	DD3
SYNONYM	HEL-S-6
MIM	103830 OMIM
HGNC	HGNC:380 HGNC
Ensembl	ENSG00000117448 Ensembl
AllianceGenome	HGNC:380

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000372070.7	hg38	chr1	45,550,543	45,570,049	19,507
ENST00000471651.1	hg38	chr1	45,551,068	45,567,588	16,521
ENST00000351829.9	hg38	chr1	45,550,826	45,570,049	19,224
ENST00000621846.4	hg38	chr1	45,550,783	45,570,048	19,266
ENST00000372070.7	hg19	chr1	46,016,215	46,035,721	19,507
ENST00000621846.4	hg19	chr1	46,016,455	46,035,720	19,266
ENST00000351829.9	hg19	chr1	46,016,498	46,035,721	19,224
ENST00000471651.1	hg19	chr1	46,016,740	46,033,260	16,521

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