Variant Results

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Results for "NACA"

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
NACA	1-0197-003	chr12: 57121239-57121242	ACTT	A	intergenic		De novo					-	-	Yuen2017 G
NACA	2-1338-003	chr12: 57112883-57112883	T	C	intronic		De novo					12.83	-	Yuen2017 G
NACA	11198.p1	chr12: 57106655-57106655	A	G	exonic		De novo	nonsynonymous SNV	NM_001113202 NM_001113203	c.T548C c.T2678C	p.L183S p.L893S	18.09	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E Wilfert2021 G
NACA	11138.p1	chr12: 57110035-57110035	C	A	intronic		De novo					12.08	-	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
NACA	08C75780	chr12: 57114218-57114218	C	T	exonic		De novo	nonsynonymous SNV	NM_001113203	c.G1096A	p.V366I	15.35	8.418E-6	Satterstrom2020 E
NACA	12424.p1	chr12: 57110443-57110443	G	A	intronic		De novo					8.422	-	Satterstrom2020 E
NACA	SSC04859	chr12: 57110443-57110443	G	A	intronic		De novo					8.422	-	Lim2017 E
NACA	SSC00075	chr12: 57110035-57110035	C	A	intronic		De novo					12.08	-	Lim2017 E

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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