REP15 RAB15 effector protein

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: REP15
Type: protein-coding
Description: RAB15 effector protein
Entrez Gene ID: 387849
Genome: hg19
Position: chr12:27,849,380-27,850,529
Genome: hg38
Position: chr12:27,696,447-27,697,596
MIM: 610848 OMIM
HGNC: HGNC:33748 HGNC
Ensembl: ENSG00000174236 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Likely benign	0	2
not provided	1	0
Uncertain significance	0	22

Ranking

	ClinVar
	0
	0
	0
	24
	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

Locus Zoom

Variants

Search Word

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

Search Word

Target data	:	MGeND data only
Category	:
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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

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

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	RAB15EP
MIM	610848 OMIM
HGNC	HGNC:33748 HGNC
Ensembl	ENSG00000174236 Ensembl
AllianceGenome	HGNC:33748

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000310791.4	hg38	chr12	27,696,447	27,697,596	1,150
ENST00000310791.4	hg19	chr12	27,849,380	27,850,529	1,150

Key	Value
strand	+
start	27,849,427
Gene Symbol	REP15
Entrez GeneId	387,849
Chr Band	12p11.22
end	27,850,565
chr	chr12

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