Variant Results

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Results for "ZNHIT6"

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
ZNHIT6	AU2250301	chr1: 86148035-86148035	A	G	intronic		De novo					-	-	Trost2022 G
ZNHIT6	7-0379-003	chr1: 86127707-86127707	C	G	intronic		De novo					-	-	Trost2022 G
ZNHIT6	14-591	chr1: 86175083-86175083	C	G	upstream		De novo					-	-	Trost2022 G
ZNHIT6	NDAR_INVXF966VTK_wes1	chr1: 86173504-86173504	T	A	exonic		De novo	nonsynonymous SNV	NM_017953 NM_001170670	c.A464T c.A347T	p.E155V p.E116V	18.71	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ZNHIT6	1-0067-005	chr1: 86172445-86172445	T	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ZNHIT6	2-0299-003	chr1: 86186904-86186904	G	A	intergenic		De novo					-	-	Yuen2017 G
ZNHIT6	SP0013350	chr1: 86146558-86146558	A	C	exonic		De novo	nonsynonymous SNV	NM_017953 NM_001170670	c.T1049G c.T932G	p.L350R p.L311R	20.7	-	Fu2022 E Trost2022 G Zhou2022 GE
ZNHIT6	1-0200-004	chr1: 86165045-86165050	ATTATG	A	intronic		De novo					-	-	Trost2022 G Yuen2017 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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