Variant Results

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Results for "GSG1"

Variant Events: 8

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
GSG1	1-0708-003	chr12: 13298773-13298773	C	G	intergenic		De novo					-	-	Yuen2017 G
GSG1	REACH000409	chr12: 13243742-13243742	G	A	exonic		De novo	nonsynonymous SNV	NM_001080554 NM_001080555 NM_001206842 NM_001206843 NM_001206845 NM_031289 NM_153823	c.C59T c.C59T c.C59T c.C20T c.C20T c.C20T c.C20T	p.S20L p.S20L p.S20L p.S7L p.S7L p.S7L p.S7L	8.513	1.719E-5	Trost2022 G Zhou2022 GE
GSG1	SSC11199	chr12: 13238002-13238002	T	C	exonic		De novo	nonsynonymous SNV	NM_001206845 NM_001206842 NM_001206843 NM_153823 NM_001080555	c.A661G c.A853G c.A730G c.A814G c.A922G	p.T221A p.T285A p.T244A p.T272A p.T308A	1.264	-	Fu2022 E Lim2017 E Trost2022 G
GSG1	SP0054416	chr12: 13256440-13256440	C	T	exonic			nonsynonymous SNV	NM_001080554 NM_001080555 NM_001206842	c.G7A c.G7A c.G7A	p.D3N p.D3N p.D3N	6.455	-	Zhou2022 GE
GSG1	2-0012-004	chr12: 13237922-13237922	G	A	exonic		De novo	synonymous SNV	NM_001206845 NM_001206842 NM_001206843 NM_153823 NM_001080555	c.C741T c.C933T c.C810T c.C894T c.C1002T	p.S247S p.S311S p.S270S p.S298S p.S334S	-	1.0E-4	Trost2022 G Yuen2015 G Yuen2017 G Zhou2022 GE
GSG1	1-0261-003	chr12: 13243888-13243888	C	CCTCT	intronic		De novo					-	-	Trost2022 G Yuen2017 G
GSG1	14241.p1	chr12: 13238002-13238002	T	C	exonic		De novo	nonsynonymous SNV	NM_001206845 NM_001206842 NM_001206843 NM_153823 NM_001080555	c.A661G c.A853G c.A730G c.A814G c.A922G	p.T221A p.T285A p.T244A p.T272A p.T308A	1.264	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Zhou2022 GE
GSG1	AU027506	chr12: 13315367-13315367	A	G	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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