Variant Results

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Results for "GMPR2"

Variant Events: 9

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
GMPR2	iHART2900	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Ruzzo2019 G
GMPR2	iHART2902	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Ruzzo2019 G
GMPR2	iHART2903	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Ruzzo2019 G
GMPR2	SP0068381	chr14: 24707555-24707555	T	C	exonic			synonymous SNV	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.T855C c.T717C c.T855C c.T801C c.T801C c.T801C c.T693C	p.Y285Y p.Y239Y p.Y285Y p.Y267Y p.Y267Y p.Y267Y p.Y231Y	-	-	Zhou2022 GE
GMPR2	mAGRE5291	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Cirnigliaro2023 G
GMPR2	mAGRE5290	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Cirnigliaro2023 G
GMPR2	mAGRE2903	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Cirnigliaro2023 G
GMPR2	mAGRE2902	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Cirnigliaro2023 G
GMPR2	mAGRE2900	chr14: 24705317-24705318	CG	C	exonic		Paternal	frameshift deletion	NM_001283022 NM_001283023 NM_016576 NM_001002000 NM_001002001 NM_001002002 NM_001283021	c.491delG c.353delG c.491delG c.437delG c.437delG c.437delG c.329delG	p.R164fs p.R118fs p.R164fs p.R146fs p.R146fs p.R146fs p.R110fs	-	1.0E-4	Cirnigliaro2023 G

Source Variant Information

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Paper Information

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Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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