Variant Results

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Results for "SLC1A4"

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
SLC1A4	1-0628-003	chr2: 65220937-65220937	G	A	intronic		De novo					-	-	Trost2022 G
SLC1A4	10-0006-003	chr2: 65222828-65222828	C	CAATAAATAATTACAATAA	intronic		De novo					-	-	Trost2022 G
SLC1A4	PN400284	chr2: 65216865-65216865	G	T	exonic		Unknown	stopgain	NM_003038	c.G88T	p.G30X	37.0	-	Leblond2019 E
SLC1A4	NDAR_INVJT291VPH_wes1	chr2: 65245299-65245299	G	A	exonic		De novo	nonsynonymous SNV	NM_001193493 NM_003038	c.G235A c.G1129A	p.V79M p.V377M	36.0	1.647E-5	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SLC1A4	AU4250301	Complex Event; expand row to view variants					De novo					-	-	Trost2022 G Yuen2017 G
SLC1A4	1-0067-005	chr2: 65272636-65272636	C	A	intergenic		De novo					-	-	Yuen2017 G
SLC1A4	2-1633-003	chr2: 65263543-65263543	T	C	intergenic		De novo					-	-	Yuen2017 G
SLC1A4	3-0484-000	chr2: 65226530-65226530	C	T	intronic		De novo					-	-	Trost2022 G
SLC1A4	5-0129-003	chr2: 65267163-65267163	G	A	intergenic		De novo					-	-	Yuen2017 G
SLC1A4	7-0331-003	chr2: 65236526-65236530	AAAAG	A	intronic		De novo					-	-	Trost2022 G

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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