Variant Results

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Results for "ATP1A1"

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
ATP1A1	2-1269-003	chr1: 116925153-116925153	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
ATP1A1	SSC10054	chr1: 116916864-116916864	G	A	splicing		De novo	splicing				14.43	-	Antaki2022 GE Fu2022 E Lim2017 E Trost2022 G
ATP1A1	1-0155-003	chr1: 116932430-116932430	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ATP1A1	14003.p1	chr1: 116916864-116916864	G	A	splicing		De novo	splicing				14.43	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ATP1A1	SP0043516	chr1: 116936182-116936182	G	A	exonic		De novo	synonymous SNV	NM_000701 NM_001160233 NM_001160234	c.G1497A c.G1497A c.G1404A	p.S499S p.S499S p.S468S	-	8.265E-6	Fu2022 E Trost2022 G Zhou2022 GE
ATP1A1	SP0076755	chr1: 116930755-116930755	G	A	exonic		De novo	synonymous SNV	NM_000701 NM_001160233 NM_001160234	c.G390A c.G390A c.G297A	p.L130L p.L130L p.L99L	-	-	Trost2022 G Zhou2022 GE
ATP1A1	AU004A	chr1: 116943617-116943617	G	A	exonic		De novo	nonsynonymous SNV	NM_000701 NM_001160233 NM_001160234	c.G2707A c.G2707A c.G2614A	p.G903R p.G903R p.G872R	26.8	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Zhou2022 GE

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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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