Variant Results

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Results for "CPEB2"

Variant Events: 7

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
CPEB2	SP0013605	chr4: 15005521-15005533	ACCCCAGCAGCCG	A	exonic			nonframeshift deletion	NM_001177381 NM_001177382 NM_001177383 NM_001177384 NM_182485 NM_182646	c.1225_1236del c.1225_1236del c.1225_1236del c.1225_1236del c.1225_1236del c.1225_1236del	p.409_412del p.409_412del p.409_412del p.409_412del p.409_412del p.409_412del	-	-	Zhou2022 GE
CPEB2	mAGRE1992	chr4: 15005208-15005208	C	A	exonic		Maternal	stopgain	NM_001177381 NM_001177382 NM_001177383 NM_001177384 NM_182485 NM_182646	c.C911A c.C911A c.C911A c.C911A c.C911A c.C911A	p.S304X p.S304X p.S304X p.S304X p.S304X p.S304X	24.6	-	Cirnigliaro2023 G
CPEB2	mAGRE1991	chr4: 15005208-15005208	C	A	exonic		Maternal	stopgain	NM_001177381 NM_001177382 NM_001177383 NM_001177384 NM_182485 NM_182646	c.C911A c.C911A c.C911A c.C911A c.C911A c.C911A	p.S304X p.S304X p.S304X p.S304X p.S304X p.S304X	24.6	-	Cirnigliaro2023 G
CPEB2	mAGRE4622	chr4: 15004731-15004732	AC	A	exonic		Paternal	frameshift deletion	NM_001177381 NM_001177382 NM_001177383 NM_001177384 NM_182485 NM_182646	c.435delC c.435delC c.435delC c.435delC c.435delC c.435delC	p.H145fs p.H145fs p.H145fs p.H145fs p.H145fs p.H145fs	-	-	Cirnigliaro2023 G
CPEB2	111308	chr4: 15004401-15004401	C	T	exonic			nonsynonymous SNV	NM_001177381 NM_001177382 NM_001177383 NM_001177384 NM_182485 NM_182646	c.C104T c.C104T c.C104T c.C104T c.C104T c.C104T	p.S35F p.S35F p.S35F p.S35F p.S35F p.S35F	6.321	-	Woodbury-Smith2022 E
CPEB2	Wang2023:472	chr4: 15005577-15005577	C	A	exonic		De novo	nonsynonymous SNV	NM_001177381 NM_001177382 NM_001177383 NM_001177384 NM_182485 NM_182646	c.C1280A c.C1280A c.C1280A c.C1280A c.C1280A c.C1280A	p.P427Q p.P427Q p.P427Q p.P427Q p.P427Q p.P427Q	7.469	-	Wang2023 E
CPEB2	SP0208123	chr4: 15004947-15004947	C	A	exonic		De novo	nonsynonymous SNV	NM_001177381 NM_001177382 NM_001177383 NM_001177384 NM_182485 NM_182646	c.C650A c.C650A c.C650A c.C650A c.C650A c.C650A	p.P217Q p.P217Q p.P217Q p.P217Q p.P217Q p.P217Q	7.725	-	Trost2022 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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