Variant Results

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Results for "ATP1B1"

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
ATP1B1	AU2129301	chr1: 169096435-169096435	A	G	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ATP1B1	MSSNG00098-003	chr1: 169076364-169076364	G	C	intronic		De novo					-	-	Trost2022 G
ATP1B1	3-0380-002	chr1: 169075729-169075729	C	T	upstream		De novo					-	-	Trost2022 G
ATP1B1	AU2023302	chr1: 169078173-169078173	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ATP1B1	2-1733-003	chr1: 169076660-169076664	AGAGG	A	intronic		De novo					-	-	Trost2022 G
ATP1B1	Uddin2014:51	chr1: 169096506-169096506	C	T	exonic		De novo	stopgain	NM_001677	c.C427T	p.R143X	15.99	-	Uddin2014 E
ATP1B1	SSC06202	chr1: 169096506-169096506	C	T	exonic		De novo	stopgain	NM_001677	c.C427T	p.R143X	15.99	-	Antaki2022 GE Fu2022 E Trost2022 G
ATP1B1	13309.p1	chr1: 169094277-169094277	G	A	exonic		De novo	nonsynonymous SNV	NM_001677	c.G382A	p.D128N	7.256	1.0E-4	Krumm2015 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE
ATP1B1	SSC06937	chr1: 169094277-169094277	G	A	exonic		De novo	nonsynonymous SNV	NM_001677	c.G382A	p.D128N	7.256	1.0E-4	Lim2017 E Trost2022 G
ATP1B1	12840.p1	chr1: 169096506-169096506	C	T	exonic		De novo	stopgain	NM_001677	c.C427T	p.R143X	15.99	-	Iossifov2012 E Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2014 T Satterstrom2020 E Wilfert2021 G Willsey2013 E Zhou2022 GE

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Paper Information

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