Variant Results

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Results for "SLC3A1"

Variant Events: 9

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
SLC3A1	G01-GEA-132-HI	chr2: 44539763-44539763	G	C	exonic		De novo	nonsynonymous SNV	NM_000341	c.G1371C	p.L457F	6.543	-	Fu2022 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
SLC3A1	AU0636303	chr2: 44502784-44502784	C	T	exonic		De novo	nonsynonymous SNV	NM_000341	c.C110T	p.P37L	15.09	8.299E-6	Trost2022 G Yuen2017 G Zhou2022 GE
SLC3A1	SP0046549	chr2: 44528112-44528112	A	G	intronic		De novo					-	-	Fu2022 E Trost2022 G
SLC3A1	12948.p1	chr2: 44508705-44508706	CA	C	intronic		De novo					-	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Trost2022 G
SLC3A1	SP0041146	chr2: 44528231-44528231	C	T	exonic		De novo	synonymous SNV	NM_000341	c.C1101T	p.T367T	-	-	Fu2022 E Trost2022 G Zhou2022 GE
SLC3A1	111289	chr2: 44539747-44539747	G	A	exonic			nonsynonymous SNV	NM_000341	c.G1355A	p.R452Q	35.0	8.241E-6	Woodbury-Smith2022 E
SLC3A1	AU2863302	chr2: 44525671-44525671	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
SLC3A1	mAGRE4328	chr2: 44547468-44547469	CA	C	exonic		Paternal	frameshift deletion	NM_000341	c.1749delA	p.T583fs	-	3.296E-5	Cirnigliaro2023 G
SLC3A1	1-0113-003	chr2: 44539707-44539707	A	C	intronic		De novo					-	-	Yuen2016 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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