Variant Results

or

or

Results for "CHAMP1"

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
CHAMP1	SP0013820	chr13: 115090509-115090509	C	T	exonic		De novo	stopgain	NM_001164144 NM_001164145 NM_032436	c.C1192T c.C1192T c.C1192T	p.R398X p.R398X p.R398X	38.0	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
CHAMP1	MSSNG00219-003	chr13: 115090913-115090913	C	T	exonic		De novo	synonymous SNV	NM_001164144 NM_001164145 NM_032436	c.C1596T c.C1596T c.C1596T	p.P532P p.P532P p.P532P	-	3.304E-5	Trost2022 G Zhou2022 GE
CHAMP1	BO15/10	chr13: 115090509-115090509	C	T	exonic		De novo	stopgain	NM_001164144 NM_001164145 NM_032436	c.C1192T c.C1192T c.C1192T	p.R398X p.R398X p.R398X	38.0	-	O’Roak2014 T
CHAMP1	1-0052-004	chr13: 115086149-115086149	G	A	intronic		De novo					-	-	Trost2022 G Yuen2017 G
CHAMP1	Leuven_383404	chr13: 115091755-115091755	G	T	exonic		Unknown	stoploss	NM_001164144 NM_001164145 NM_032436	c.G2438T c.G2438T c.G2438T	p.X813L p.X813L p.X813L	4.305	-	Wang2020 T
CHAMP1	2-1644-004	chr13: 115090609-115090609	G	A	exonic		Unknown, De novo	nonsynonymous SNV	NM_001164144 NM_001164145 NM_032436	c.G1292A c.G1292A c.G1292A	p.R431H p.R431H p.R431H	14.43	8.244E-6	Trost2022 G Wang2020 T Yuen2017 G Zhou2022 GE
CHAMP1	SF0013820.p1	chr13: 115090509-115090509	C	T	exonic			stopgain	NM_001164144 NM_001164145 NM_032436	c.C1192T c.C1192T c.C1192T	p.R398X p.R398X p.R398X	38.0	-	Wang2020 T

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