Variant Results

or

or

Results for "BRF2"

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
BRF2	mAGRE4791	chr8: 37704529-37704529	G	A	exonic		Maternal	stopgain	NM_018310	c.C379T	p.R127X	33.0	2.471E-5	Cirnigliaro2023 G
BRF2	mAGRE4790	chr8: 37704529-37704529	G	A	exonic		Maternal	stopgain	NM_018310	c.C379T	p.R127X	33.0	2.471E-5	Cirnigliaro2023 G
BRF2	SP0046049	chr8: 37702661-37702661	G	A	exonic		De novo	stopgain	NM_018310	c.C607T	p.R203X	17.72	1.673E-5	Fu2022 E Trost2022 G Trost2022 G Zhou2022 GE
BRF2	SSC09139	chr8: 37702145-37702147	CAG	C	exonic		De novo	frameshift deletion	NM_018310	c.1121_1122del	p.P374fs	-	6.595E-5	Fu2022 E Trost2022 G
BRF2	13618.p1	chr8: 37702145-37702147	CAG	C	exonic		De novo	frameshift deletion	NM_018310	c.1121_1122del	p.P374fs	-	6.595E-5	Dong2014 E Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Willsey2013 E Zhou2022 GE
BRF2	SP0085701	chr8: 37702661-37702661	G	C	exonic			nonsynonymous SNV	NM_018310	c.C607G	p.R203G	13.9	-	Zhou2022 GE
BRF2	3-0728-000	chr8: 37701907-37701907	A	C	UTR3		De novo					-	-	Trost2022 G Trost2022 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More