RARA retinoic acid receptor alpha

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Information

Symbol: RARA
Type: protein-coding
Description: retinoic acid receptor alpha
Entrez Gene ID: 5914
Genome: hg19
Position: chr17:38,465,432-38,513,895
Genome: hg38
Position: chr17:40,309,180-40,357,643
MIM: 180240 OMIM
HGNC: HGNC:9864 HGNC
Ensembl: ENSG00000131759 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	8
Likely benign	0	6
Conflicting classifications of pathogenicity	0	2
drug response	0	2
not provided	14	0
Uncertain significance	0	32
Uncertain significance; drug response	0	2

Ranking

	ClinVar
	0
	0
	0
	44
	6

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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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	NR1B1
SYNONYM	RAR
SYNONYM	RARalpha
MIM	180240 OMIM
HGNC	HGNC:9864 HGNC
Ensembl	ENSG00000131759 Ensembl
AllianceGenome	HGNC:9864

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000425707.7	hg38	chr17	40,318,285	40,357,643	39,359
ENST00000394086.7	hg38	chr17	40,341,388	40,356,795	15,408
ENST00000394081.7	hg38	chr17	40,342,363	40,356,795	14,433
ENST00000254066.10	hg38	chr17	40,309,180	40,357,643	48,464
ENST00000394089.6	hg38	chr17	40,318,281	40,356,331	38,051
ENST00000254066.10	hg19	chr17	38,465,432	38,513,895	48,464
ENST00000394089.6	hg19	chr17	38,474,533	38,512,583	38,051
ENST00000425707.7	hg19	chr17	38,474,537	38,513,895	39,359
ENST00000394086.7	hg19	chr17	38,497,640	38,513,047	15,408
ENST00000394081.7	hg19	chr17	38,498,615	38,513,047	14,433

Key	Value
strand	+
UniProt	OG
start	38,465,422
Gene Symbol	RARA
Entrez GeneId	5,914
Chr Band	17q12
end	38,513,894
chr	chr17
Name	retinoic acid receptor, alpha

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