Variant Results

or

Results for "CSDE1"

Variant Events: 17

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

SP0129054

chr1:
115269639-115269639

C

G

exonic

nonsynonymous SNV

NM_001242893
NM_001242892
NM_007158
NM_001007553
NM_001130523
NM_001242891

c.G1336C
c.G1429C
c.G1336C
c.G1429C
c.G1474C
c.G1567C

p.V446L
p.V477L
p.V446L
p.V477L
p.V492L
p.V523L

10.72

-

Zhou2022 GE

CSDE1

SP0330037

chr1:
115269636-115269636

C

T

exonic

nonsynonymous SNV

NM_001242893
NM_001242892
NM_007158
NM_001007553
NM_001130523
NM_001242891

c.G1339A
c.G1432A
c.G1339A
c.G1432A
c.G1477A
c.G1570A

p.E447K
p.E478K
p.E447K
p.E478K
p.E493K
p.E524K

33.0

-

Zhou2022 GE

CSDE1

SP0143247

chr1:
115261317-115261317

G

A

exonic

nonsynonymous SNV

NM_001242893
NM_001242892
NM_007158
NM_001007553
NM_001130523
NM_001242891

c.C2173T
c.C2266T
c.C2173T
c.C2266T
c.C2311T
c.C2404T

p.R725C
p.R756C
p.R725C
p.R756C
p.R771C
p.R802C

17.4

-

Zhou2022 GE

CSDE1

AU030103

chr1:
115259782-115259782

A

G

UTR3

De novo

-

Trost2022 G
Trost2022 G
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
Trost2022 G
Zhou2022 GE

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
Zhou2022 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
Trost2022 G
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

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

SP0044428

chr1:
115275377-115275377

C

T

exonic

nonsynonymous SNV

NM_001242893
NM_001242892
NM_007158
NM_001007553
NM_001130523
NM_001242891

c.G805A
c.G898A
c.G805A
c.G898A
c.G943A
c.G1036A

p.G269R
p.G300R
p.G269R
p.G300R
p.G315R
p.G346R

33.0

-

Zhou2022 GE

CSDE1

MSSNG00012-003

chr1:
115285765-115285769

TTTAA

T

intronic

De novo

-

Trost2022 G

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

SP0195684

chr1:
115266469-115266469

C

T

intronic

De novo

-

Trost2022 G

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
Zhou2022 GE

CSDE1

REACH000681

chr1:
115277829-115277829

T

C

intronic

De novo

-

Trost2022 G

CSDE1

MSSNG00142-003

chr1:
115274441-115274441

T

C

intronic

De novo

-

Trost2022 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
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