RNF43 ring finger protein 43

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: RNF43
Type: protein-coding
Description: ring finger protein 43
Entrez Gene ID: 54894
Genome: hg19
Position: chr17:56,431,037-56,494,894
Genome: hg38
Position: chr17:58,353,676-58,417,533
MIM: 612482 OMIM
HGNC: HGNC:18505 HGNC
Ensembl: ENSG00000108375 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	2	6
Likely pathogenic	1	10
Benign	0	72
Likely benign	0	376
Conflicting classifications of pathogenicity	0	34
not provided	309	0
Uncertain significance	4	786

Ranking

	ClinVar
	0
	0
	314
	912
	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

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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Target data	:	MGeND data only
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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	RNF124
SYNONYM	SSPCS
SYNONYM	URCC
MIM	612482 OMIM
HGNC	HGNC:18505 HGNC
Ensembl	ENSG00000108375 Ensembl
AllianceGenome	HGNC:18505

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000407977.7	hg38	chr17	58,353,676	58,417,534	63,859
ENST00000581868.1	hg38	chr17	58,356,983	58,417,085	60,103
ENST00000577625.5	hg38	chr17	58,354,927	58,402,721	47,795
ENST00000584437.5	hg38	chr17	58,353,676	58,417,533	63,858
ENST00000577716.5	hg38	chr17	58,353,676	58,417,582	63,907
ENST00000583753.5	hg38	chr17	58,353,676	58,415,641	61,966
ENST00000583753.5	hg19	chr17	56,431,037	56,493,002	61,966
ENST00000584437.5	hg19	chr17	56,431,037	56,494,894	63,858
ENST00000407977.7	hg19	chr17	56,431,037	56,494,895	63,859
ENST00000577716.5	hg19	chr17	56,431,037	56,494,943	63,907
ENST00000577625.5	hg19	chr17	56,432,288	56,480,082	47,795
ENST00000581868.1	hg19	chr17	56,434,344	56,494,446	60,103

Key	Value
strand	-
start	56,429,860
Vogelstein	TSG
Gene Symbol	RNF43
Entrez GeneId	54,894
Chr Band	17q23.2
end	56,494,942
chr	chr17
Name	ring finger protein 43

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