Variant Results

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Results for "PCK2"

Variant Events: 5

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
PCK2	mAGRE2787	chr14: 24569206-24569206	C	T	exonic		Maternal	stopgain	NM_001018073 NM_001291556 NM_001308054 NM_004563	c.C1018T c.C616T c.C616T c.C1018T	p.R340X p.R206X p.R206X p.R340X	39.0	4.969E-5	Cirnigliaro2023 G
PCK2	iHART3002	chr14: 24567595-24567595	G	GGCTGTGGATGAGA	exonic		Paternal	frameshift insertion	NM_001018073 NM_001291556 NM_001308054 NM_004563	c.459_460insGCTGTGGATGAGA c.57_58insGCTGTGGATGAGA c.57_58insGCTGTGGATGAGA c.459_460insGCTGTGGATGAGA	p.Q153fs p.Q19fs p.Q19fs p.Q153fs	-	6.694E-5	Ruzzo2019 G
PCK2	mAGRE2788	chr14: 24569206-24569206	C	T	exonic		Maternal	stopgain	NM_001018073 NM_001291556 NM_001308054 NM_004563	c.C1018T c.C616T c.C616T c.C1018T	p.R340X p.R206X p.R206X p.R340X	39.0	4.969E-5	Cirnigliaro2023 G
PCK2	AU4483301	chr14: 24578424-24578424	T	C	intergenic		De novo					-	-	Trost2022 G Yuen2017 G
PCK2	3-0719-001	chr14: 24571327-24571327	C	T	intronic		De novo					-	-	Trost2022 G Trost2022 G

Source Variant Information

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Paper Information

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Pubmed
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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