Variant Results

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Results for "PFKFB2"

Variant Events: 10

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
PFKFB2	1-0009-004	chr1: 207256912-207256912	G	A	intergenic		De novo					-	-	Yuen2017 G
PFKFB2	2-1252-003	chr1: 207252755-207252755	G	C	UTR3		De novo					-	-	Trost2022 G Yuen2017 G
PFKFB2	AU3712302	chr1: 207235425-207235425	T	C	splicing		Paternal	splicing				16.5	1.651E-5	Cirnigliaro2023 G
PFKFB2	36735	chr1: 207237157-207237158	AT	A	exonic		De novo	frameshift deletion	NM_001018053 NM_006212	c.491delT c.491delT	p.I164fs p.I164fs	-	-	Fu2022 E Trost2022 G
PFKFB2	SP0076302	chr1: 207228174-207228174	G	C	intronic		De novo					-	-	Fu2022 E
PFKFB2	14508.p1	chr1: 207237157-207237158	AT	A	exonic		De novo	frameshift deletion	NM_001018053 NM_006212	c.491delT c.491delT	p.I164fs p.I164fs	-	-	Iossifov2014 E Ji2016 E Kosmicki2017 E O’Roak2014 T Satterstrom2020 E Wilfert2021 G Zhou2022 GE
PFKFB2	13251.p1	chr1: 207244511-207244511	C	T	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E
PFKFB2	SP0241906	chr1: 207250150-207250150	T	G	UTR3		De novo					-	-	Trost2022 G
PFKFB2	SP0061725	chr1: 207246296-207246296	C	G	UTR3		De novo					-	-	Fu2022 E Trost2022 G
PFKFB2	Wang2023:741	chr1: 207236027-207236027	C	G	exonic		De novo	nonsynonymous SNV	NM_001018053 NM_006212	c.C274G c.C274G	p.R92G p.R92G	18.85	-	Wang2023 E

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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