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Results for "NSD2"

Variant Events: 29

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     SP0083761chr4:
1949007-1949007
GAUTR3De novo--Fu2022 E
NSD2     SP0132707chr4:
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
--Fu2022 E
NSD2     ITAN_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
NSD2     SP0069410chr4:
1950119-1950119
CTUTR3De novo--Fu2022 E
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
NSD2     1-0560-003chr4:
1949340-1949340
GAUTR3De novo--Yuen2017 G
NSD2     SP0037273chr4:
1949773-1949773
AGUTR3De novo--Fu2022 E
NSD2     SP0086279chr4:
1978433-1978433
GAintronicDe novo--Fu2022 E
NSD2     SP0083886chr4:
1950369-1950369
CAUTR3De novo--Fu2022 E
NSD2     7-0179-003chr4:
1915326-1915338
CCTCTCTCTCTCTCCTCTCTCTCTintronicDe novo--Yuen2017 G
NSD2     SF0132707.p1chr4:
1976596-1976596
AATexonicframeshift 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     AU021204chr4:
1980530-1980530
CTexonicUnknown, De 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     1-0674-003chr4:
1981696-1981696
GAUTR3De novo--Yuen2017 G
NSD2     AC01-1002-01chr4:
1920309-1920310
GCGexonicUnknown, De 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
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
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     2-1549-003chr4:
1982170-1982170
AGUTR3De novo--Yuen2017 G
NSD2     ACGC_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
NSD2     TASC_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-6Wang2020 T
NSD2     SanDiego_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
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
NSD2     ACGC_M15131chr4:
1941509-1941512
AAATAexonicUnknownnonframeshift deletionNM_007331c.1886_1888delp.629_630del-8.249E-6Wang2020 T
NSD2     ACGC_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
NSD2     2-1255-003chr4:
1925334-1925334
AGintronicDe novo--Yuen2017 G
NSD2     ACGC_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
NSD2     ACGC_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
NSD2     ACGC_M20285chr4:
1941509-1941512
AAATAexonicUnknownnonframeshift deletionNM_007331c.1886_1888delp.629_630del-8.249E-6Wang2020 T
NSD2     ACGC_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-Wang2020 T
Source Variant Information

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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
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