or
or
Exact

Results for "DIS3L2"

Variant Events: 63

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
DIS3L2     2-1377-003chr2:
233006817-233006817
AGintronicDe novo--Trost2022 G
DIS3L2     2-1166-003chr2:
233151935-233151935
AGintronicDe novo--Yuen2017 G
DIS3L2     2-1485-004chr2:
232967708-232967713
TTTGAGTintronicDe novo--Yuen2017 G
DIS3L2     REACH000229chr2:
233032161-233032161
CCTintronicDe novo--Trost2022 G
DIS3L2     1-0010-003chr2:
232975325-232975327
GTGACAintronicDe novo--Trost2022 G
DIS3L2     MSSNG00250-003chr2:
232994529-232994529
CTintronicDe novo--Trost2022 G
DIS3L2     4-0014-003chr2:
232950979-232950979
GAintronicDe novo--Trost2022 G
DIS3L2     4-0008-003chr2:
232969335-232969335
ACintronicDe novo--Trost2022 G
DIS3L2     1-0059-003Achr2:
232901849-232901849
CTintronicDe novo--Trost2022 G
DIS3L2     AU4093302chr2:
233143600-233143600
AGintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     2-1091-003chr2:
232929216-232929216
CTintronicDe novo--Trost2022 G
DIS3L2     1-0059-003chr2:
232901849-232901849
CTintronicDe novo--Yuen2017 G
DIS3L2     MT_56.3chr2:
233180873-233180873
TAintronicDe novo--Trost2022 G
DIS3L2     1-1135-003chr2:
233185365-233185365
TCintronicDe novo--Trost2022 G
DIS3L2     SJD_54.3chr2:
233168105-233168105
CTintronicDe novo--Trost2022 G
DIS3L2     REACH000762chr2:
233179140-233179140
AGintronicDe novo--Trost2022 G
DIS3L2     1-0025-006chr2:
233111593-233111595
TTTGTCCintronicDe novo--Trost2022 G
DIS3L2     REACH000602chr2:
233150223-233150223
GAintronicDe novo--Trost2022 G
DIS3L2     2-1294-004chr2:
233051485-233051485
AGintronicDe novo--Trost2022 G
DIS3L2     2-1347-003chr2:
233111588-233111589
TTATGintronicDe novo--Trost2022 G
DIS3L2     11625.p1chr2:
233103250-233103250
CAexonicMosaic, De novononsynonymous SNVNM_001257281
NM_152383
c.C1212A
c.C1212A
p.F404L
p.F404L
14.26-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
DIS3L2     11012.p1chr2:
233128020-233128020
CTexonicDe novononsynonymous SNVNM_001257281
NM_152383
c.C1529T
c.C1529T
p.A510V
p.A510V
6.9571.656E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
DIS3L2     2-1337-003chr2:
233236943-233236943
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
DIS3L2     SP0148352chr2:
233201918-233201918
CTintronicDe novo--Trost2022 G
DIS3L2     1-0043-004chr2:
233005579-233005579
CTintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     AU3692302chr2:
233151634-233151634
CTintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     1-0206-005chr2:
233208123-233208123
AAGGGexonicDe novononframeshift insertionNM_001257281c.1650_1651insGGGp.E550delinsEG-0.003Yuen2017 G
DIS3L2     2-0068-003chr2:
233127398-233127398
ATintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     2-1485-003chr2:
232967708-232967713
TTTGAGTintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     11012_p1chr2:
233128020-233128020
CTexonicDe novononsynonymous SNVNM_001257281
NM_152383
c.C1529T
c.C1529T
p.A510V
p.A510V
6.9571.656E-5Fu2022 E
DIS3L2     11625_p1chr2:
233103250-233103250
CAexonicDe novononsynonymous SNVNM_001257281
NM_152383
c.C1212A
c.C1212A
p.F404L
p.F404L
14.26-Fu2022 E
DIS3L2     1-0344-003chr2:
233150072-233150072
CAintronicDe novo--Yuen2017 G
DIS3L2     1-0486-003chr2:
233208191-233208191
GAexonicDe novononsynonymous SNVNM_001257281c.G1718Ap.R573Q5.93-Yuen2017 G
Zhou2022 GE
DIS3L2     1-0206-004chr2:
233208123-233208123
AAGGGexonicDe novononframeshift insertionNM_001257281c.1650_1651insGGGp.E550delinsEG-0.003Trost2022 G
Yuen2017 G
DIS3L2     AU4269301chr2:
232835200-232835200
CTintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     SP0024847chr2:
233164802-233164802
AGexonicDe novononsynonymous SNVNM_152383c.A1712Gp.H571R13.21-Fu2022 E
Trost2022 G
Zhou2022 GE
DIS3L2     AU3122301chr2:
233021336-233021336
TGintronicDe novo--Yuen2017 G
DIS3L2     1-0401-003chr2:
232870629-232870629
GCintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     AU0636303chr2:
233202332-233202332
AGintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     AU3765302chr2:
233026147-233026147
AGintronicDe novo--Yuen2017 G
DIS3L2     Marques2022:206chr2:
233028237-233028237
AGexonicnonsynonymous SNVNM_001257281
NM_152383
c.A1019G
c.A1019G
p.Y340C
p.Y340C
21.11.0E-4Marques2022 ET
DIS3L2     5-0137-003chr2:
232956205-232956205
ATintronicDe novo--Yuen2017 G
DIS3L2     Marques2022:205chr2:
233001277-233001279
CCTCexonicframeshift deletionNM_001257281
NM_152383
c.799_800del
c.799_800del
p.L267fs
p.L267fs
--Marques2022 ET
DIS3L2     Marques2022:208chr2:
233127938-233127938
CGexonicnonsynonymous SNVNM_001257281
NM_152383
c.C1447G
c.C1447G
p.R483G
p.R483G
20.67.0E-4Marques2022 ET
DIS3L2     Marques2022:207chr2:
233127938-233127938
CGexonicnonsynonymous SNVNM_001257281
NM_152383
c.C1447G
c.C1447G
p.R483G
p.R483G
20.67.0E-4Marques2022 ET
DIS3L2     Marques2022:202chr2:
232880381-232880381
GCexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383
c.G210C
c.G210C
c.G210C
p.Q70H
p.Q70H
p.Q70H
20.2-Marques2022 ET
DIS3L2     Marques2022:204chr2:
232894729-232894729
GCexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383
c.G305C
c.G305C
c.G305C
p.R102P
p.R102P
p.R102P
27.25.8E-5Marques2022 ET
DIS3L2     Marques2022:203chr2:
232889039-232889039
CTexonicnonsynonymous SNVNM_001257281
NM_001257282
NM_152383
c.C263T
c.C263T
c.C263T
p.P88L
p.P88L
p.P88L
21.69.0E-4Marques2022 ET
DIS3L2     Marques2022:214chr2:
233194645-233194645
TCexonicnonsynonymous SNVNM_152383c.T1862Cp.L621P21.98.372E-6Marques2022 ET
DIS3L2     Marques2022:213chr2:
233194618-233194618
CTexonicnonsynonymous SNVNM_152383c.C1835Tp.P612L18.351.683E-5Marques2022 ET
DIS3L2     Marques2022:216chr2:
233201302-233201302
GTexonicstopgainNM_152383c.G2620Tp.E874X34.03.594E-5Marques2022 ET
DIS3L2     Marques2022:215chr2:
233198613-233198613
ATexonicnonsynonymous SNVNM_152383c.A2074Tp.N692Y20.1-Marques2022 ET
DIS3L2     Marques2022:210chr2:
233164812-233164812
GTexonicnonsynonymous SNVNM_152383c.G1722Tp.E574D18.181.0E-4Marques2022 ET
DIS3L2     Marques2022:209chr2:
233127939-233127939
GAexonicnonsynonymous SNVNM_001257281
NM_152383
c.G1448A
c.G1448A
p.R483Q
p.R483Q
24.00.0113Marques2022 ET
DIS3L2     Marques2022:212chr2:
233194609-233194609
GAexonicnonsynonymous SNVNM_152383c.G1826Ap.R609Q32.02.546E-5Marques2022 ET
DIS3L2     Marques2022:211chr2:
233194608-233194608
CTexonicnonsynonymous SNVNM_152383c.C1825Tp.R609W25.51.0E-4Marques2022 ET
DIS3L2     1-0673-003chr2:
233007927-233007927
AGintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     2-1089-004chr2:
232925368-232925368
AGintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     MSSNG00422-004chr2:
232850246-232850246
GAintronicDe novo--Trost2022 G
DIS3L2     SP0087569chr2:
232879579-232879579
TGUTR5De novo--Trost2022 G
DIS3L2     AU4223302chr2:
232827472-232827472
CTintronicDe novo--Trost2022 G
DIS3L2     AU061003chr2:
233009796-233009796
TAintronicDe novo--Trost2022 G
Yuen2017 G
DIS3L2     74-0265chr2:
233207809-233207809
GAintronicDe novo--Michaelson2012 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 notesView
More