or
or
Exact

Results for "NSD2"

Variant Events: 21

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
NSD2     206chr4:
1980512-1980512
AGexonicPaternalnonsynonymous SNVNM_001042424
NM_133335
NM_133331
NM_133330
c.A3974G
c.A3974G
c.A3974G
c.A3974G
p.E1325G
p.E1325G
p.E1325G
p.E1325G
22.7-Wang2020 T
Wang2020 T
NSD2     AC01-1002-01chr4:
1920309-1920310
GCGexonicDe novoframeshift deletionNM_133334
NM_001042424
NM_133335
NM_133331
NM_007331
NM_133330
c.1370delC
c.1370delC
c.1370delC
c.1370delC
c.1370delC
c.1370delC
p.A457fs
p.A457fs
p.A457fs
p.A457fs
p.A457fs
p.A457fs
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
NSD2     212-21020-1chr4:
1902634-1902634
CTexonicUnknownnonsynonymous SNVNM_133334
NM_001042424
NM_133335
NM_133331
NM_007331
NM_133330
c.C253T
c.C253T
c.C253T
c.C253T
c.C253T
c.C253T
p.R85W
p.R85W
p.R85W
p.R85W
p.R85W
p.R85W
21.38.246E-6Stessman2017 T
Wang2020 T
Wang2020 T
NSD2     1-0560-003chr4:
1949340-1949340
GAUTR3De novo--Yuen2017 G
NSD2     12346.p1chr4:
1944041-1944041
TCUTR3De novo-8.274E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NSD2     3-0140-000chr4:
1929981-1929983
CATCintronicDe novo--Yuen2017 G
NSD2     AU078503chr4:
1966456-1966456
CAintronicDe novo--Yuen2017 G
NSD2     00158-D7Z5Uchr4:
1957826-1957826
CTexonicUnknownnonsynonymous SNVNM_001042424
NM_133335
NM_133331
NM_133330
c.C2792T
c.C2792T
c.C2792T
c.C2792T
p.T931M
p.T931M
p.T931M
p.T931M
29.68.323E-6Wang2020 T
Wang2020 T
NSD2     2-1549-003chr4:
1982170-1982170
AGUTR3De novo--Yuen2017 G
NSD2     7-0179-003chr4:
1915326-1915338
CCTCTCTCTCTCTCCTCTCTCTCTintronicDe novo--Yuen2017 G
NSD2     GX0086.p1chr4:
1978364-1978364
GTexonicDe novononsynonymous SNVNM_001042424
NM_133335
NM_133331
NM_133330
c.G3784T
c.G3784T
c.G3784T
c.G3784T
p.A1262S
p.A1262S
p.A1262S
p.A1262S
34.0-Guo2018 T
Wang2020 T
Wang2020 T
NSD2     SF0132707.p1chr4:
1976596-1976596
AATexonicDe novoframeshift insertionNM_001042424
NM_133335
NM_133331
NM_133330
c.3380dupT
c.3380dupT
c.3380dupT
c.3380dupT
p.I1127fs
p.I1127fs
p.I1127fs
p.I1127fs
--Wang2020 T
NSD2     2-1255-003chr4:
1925334-1925334
AGintronicDe novo--Yuen2017 G
NSD2     HEN0143.p1chr4:
1920288-1920288
CTexonicUnknownstopgainNM_133334
NM_001042424
NM_133335
NM_133331
NM_007331
NM_133330
c.C1348T
c.C1348T
c.C1348T
c.C1348T
c.C1348T
c.C1348T
p.R450X
p.R450X
p.R450X
p.R450X
p.R450X
p.R450X
37.0-Wang2020 T
Wang2020 T
NSD2     HN0286.p1chr4:
1977024-1977024
CGexonicUnknownnonsynonymous SNVNM_001042424
NM_133335
NM_133331
NM_133330
c.C3518G
c.C3518G
c.C3518G
c.C3518G
p.T1173R
p.T1173R
p.T1173R
p.T1173R
22.08.242E-6Wang2020 T
Wang2020 T
NSD2     AU021204chr4:
1980530-1980530
CTexonicDe novononsynonymous SNVNM_001042424
NM_133335
NM_133331
NM_133330
c.C3992T
c.C3992T
c.C3992T
c.C3992T
p.A1331V
p.A1331V
p.A1331V
p.A1331V
5.3173.0E-4Wang2020 T
Yuen2017 G
NSD2     M15131chr4:
1941509-1941512
AAATAexonicUnknownnonframeshift deletionNM_007331c.1886_1888delp.629_630del-8.249E-6Wang2020 T
Wang2020 T
NSD2     1-0674-003chr4:
1981696-1981696
GAUTR3De novo--Yuen2017 G
NSD2     M20285chr4:
1941509-1941512
AAATAexonicUnknownnonframeshift deletionNM_007331c.1886_1888delp.629_630del-8.249E-6Wang2020 T
Wang2020 T
Wang2020 T
NSD2     HEN0060.p1chr4:
1980493-1980493
GAexonicUnknownnonsynonymous SNVNM_001042424
NM_133335
NM_133331
NM_133330
c.G3955A
c.G3955A
c.G3955A
c.G3955A
p.G1319R
p.G1319R
p.G1319R
p.G1319R
28.0-Wang2020 T
Wang2020 T
NSD2     HN0176.p1chr4:
1978347-1978347
GAexonicUnknownnonsynonymous SNVNM_001042424
NM_133335
NM_133331
NM_133330
c.G3767A
c.G3767A
c.G3767A
c.G3767A
p.R1256H
p.R1256H
p.R1256H
p.R1256H
22.9-Wang2020 T
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 notesView
More