Variant Results

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Results for "CSDE1"

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
CSDE1	AU030103	chr1: 115259782-115259782	A	G	UTR3		De novo					-	-	Yuen2017 G
CSDE1	SP0091184	chr1: 115268950-115268950	G	A	exonic		De novo	stopgain	NM_001242893 NM_001242892 NM_007158 NM_001007553 NM_001130523 NM_001242891	c.C1429T c.C1522T c.C1429T c.C1522T c.C1567T c.C1660T	p.R477X p.R508X p.R477X p.R508X p.R523X p.R554X	44.0	-	Antaki2022 GE Fu2022 E
CSDE1	SSC08192	chr1: 115280664-115280664	G	A	exonic			stopgain	NM_001242892 NM_001242893 NM_001007553 NM_007158 NM_001130523 NM_001242891	c.C229T c.C229T c.C229T c.C229T c.C367T c.C367T	p.R77X p.R77X p.R77X p.R77X p.R123X p.R123X	37.0	-	Antaki2022 GE
CSDE1	SP0133149	chr1: 115273176-115273176	C	CAT	exonic			frameshift insertion	NM_001242893 NM_001242892 NM_007158 NM_001007553 NM_001130523 NM_001242891	c.1050_1051insAT c.1143_1144insAT c.1050_1051insAT c.1143_1144insAT c.1188_1189insAT c.1281_1282insAT	p.G351fs p.G382fs p.G351fs p.G382fs p.G397fs p.G428fs	-	-	Antaki2022 GE
CSDE1	13608.p1	chr1: 115280664-115280664	G	A	exonic		De novo	stopgain	NM_001242892 NM_001242893 NM_001007553 NM_007158 NM_001130523 NM_001242891	c.C229T c.C229T c.C229T c.C229T c.C367T c.C367T	p.R77X p.R77X p.R77X p.R77X p.R123X p.R123X	37.0	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E O’Roak2014 T Satterstrom2020 E Wilfert2021 G Willsey2013 E
CSDE1	AU030104	chr1: 115259782-115259782	A	G	UTR3		De novo					-	-	Yuen2017 G
CSDE1	13608_p1	chr1: 115280664-115280664	G	A	exonic		De novo	stopgain	NM_001242892 NM_001242893 NM_001007553 NM_007158 NM_001130523 NM_001242891	c.C229T c.C229T c.C229T c.C229T c.C367T c.C367T	p.R77X p.R77X p.R77X p.R77X p.R123X p.R123X	37.0	-	Fu2022 E
CSDE1	Uddin2014:41	chr1: 115280664-115280664	G	A	exonic		De novo	stopgain	NM_001242892 NM_001242893 NM_001007553 NM_007158 NM_001130523 NM_001242891	c.C229T c.C229T c.C229T c.C229T c.C367T c.C367T	p.R77X p.R77X p.R77X p.R77X p.R123X p.R123X	37.0	-	Uddin2014 E
CSDE1	DEASD_0137_001	chr1: 115276416-115276416	G	T	exonic		De novo	synonymous SNV	NM_001242893 NM_001242892 NM_007158 NM_001007553 NM_001130523 NM_001242891	c.C681A c.C774A c.C681A c.C774A c.C819A c.C912A	p.I227I p.I258I p.I227I p.I258I p.I273I p.I304I	-	-	DeRubeis2014 E Fu2022 E Kosmicki2017 E Lim2017 E

Source Variant Information

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Paper Information

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