Variant Results

or

or

Results for "ABCE1"

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
ABCE1	DEASD_1039_001	chr4: 146044579-146044579	C	A	intronic		De novo					-	-	Satterstrom2020 E Trost2022 G
ABCE1	SSC08040	chr4: 146044179-146044179	G	A	exonic		De novo	nonsynonymous SNV	NM_001040876 NM_002940	c.G1270A c.G1270A	p.V424I p.V424I	34.0	-	Antaki2022 GE Trost2022 G
ABCE1	SP0156528	chr4: 146038522-146038522	C	G	exonic		De novo	nonsynonymous SNV	NM_001040876 NM_002940	c.C878G c.C878G	p.P293R p.P293R	27.8	-	Trost2022 G
ABCE1	13548.p1	chr4: 146044179-146044179	G	A	exonic		De novo	nonsynonymous SNV	NM_001040876 NM_002940	c.G1270A c.G1270A	p.V424I p.V424I	34.0	-	Ji2016 E Krumm2015 E Satterstrom2020 E Zhou2022 GE
ABCE1	AU060004	chr4: 146022225-146022225	A	T	intronic		De novo					-	-	Yuen2017 G
ABCE1	AU3053302	chr4: 146045613-146045613	T	C	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ABCE1	SP0090114	chr4: 146038515-146038515	G	A	exonic		De novo	nonsynonymous SNV	NM_001040876 NM_002940	c.G871A c.G871A	p.G291S p.G291S	36.0	-	Fu2022 E Trost2022 G Zhou2022 GE

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