Variant Results

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Results for "GBP6"

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
GBP6	mAGRE5723	chr1: 89835163-89835168	GCCCCA	G	exonic		Maternal	frameshift deletion	NM_198460	c.250_254del	p.P84fs	-	5.77E-5	Cirnigliaro2023 G
GBP6	mAGRE4227	chr1: 89835163-89835168	GCCCCA	G	exonic		Paternal	frameshift deletion	NM_198460	c.250_254del	p.P84fs	-	5.77E-5	Cirnigliaro2023 G
GBP6	SP0091005	chr1: 89847206-89847206	T	G	intronic		De novo					-	-	Fu2022 E
GBP6	11946.p1	chr1: 89847489-89847489	C	A	exonic		Mosaic	nonsynonymous SNV	NM_198460	c.C1108A	p.H370N	7.224	-	Dou2017 E
GBP6	11470.p1	Complex Event; expand row to view variants					De novo	synonymous SNV	NM_198460 NM_198460	c.A687G c.A687T	p.P229P p.P229P	-	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E Sanders2012 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
GBP6	2-1408-004	chr1: 89864415-89864415	G	T	intergenic		De novo					-	-	Yuen2017 G
GBP6	AC03-1002-01	chr1: 89846032-89846032	G	A	exonic		De novo	nonsynonymous SNV	NM_198460	c.G713A	p.R238Q	14.23	8.243E-6	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
GBP6	SSC02938	chr1: 89846006-89846006	A	G	exonic		De novo	synonymous SNV	NM_198460	c.A687G	p.P229P	-	-	Fu2022 E Lim2017 E Trost2022 G
GBP6	mAGRE4622	chr1: 89849687-89849687	C	T	exonic		Maternal	stopgain	NM_198460	c.C1504T	p.Q502X	36.0	1.678E-5	Cirnigliaro2023 G
GBP6	mAGRE4621	chr1: 89849687-89849687	C	T	exonic		Maternal	stopgain	NM_198460	c.C1504T	p.Q502X	36.0	1.678E-5	Cirnigliaro2023 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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