Variant Results

or

or

Results for "ACOT11"

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
ACOT11	NDAR_INVLT014TFN_wes1	chr1: 55060359-55060359	A	G	exonic		De novo	nonsynonymous SNV	NM_015547 NM_147161	c.A602G c.A602G	p.Q201R p.Q201R	13.01	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E Satterstrom2020 E
ACOT11	AU066404	chr1: 55051667-55051667	G	A	intronic		De novo					-	-	Yuen2017 G
ACOT11	DEASD_1018_001	chr1: 55062979-55062979	C	T	exonic		De novo	nonsynonymous SNV	NM_015547 NM_147161	c.C655T c.C655T	p.R219C p.R219C	11.66	8.322E-6	Fu2022 E Satterstrom2020 E
ACOT11	5-0042-003	chr1: 55046916-55046916	T	C	intronic		De novo					-	-	Yuen2017 G
ACOT11	2-0270-003	chr1: 55024343-55024343	G	T	intronic		De novo					-	-	Yuen2017 G
ACOT11	Cukier2014:17342	chr1: 55050353-55050353	G	A	exonic		Unknown	nonsynonymous SNV	NM_015547 NM_147161	c.G59A c.G59A	p.R20H p.R20H	19.24	0.0187	Cukier2014 E
ACOT11	1-0448-003	chr1: 55014815-55014815	C	T	intronic		De novo					-	-	Yuen2017 G
ACOT11	1000482995765539-C	chr1: 55065092-55065092	A	G	intronic		De novo					-	-	Fu2022 E
ACOT11	AU4263304	chr1: 55060300-55060300	G	A	exonic		De novo	synonymous SNV	NM_015547 NM_147161	c.G543A c.G543A	p.R181R p.R181R	-	-	Yuen2017 G

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notes	View
	More