or
or
Exact

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		CTexonicDe novo, Unknownnonsynonymous 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		GCGexonicDe novo, Unknownframeshift 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

, -

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

VariCarta Copyright © 2016-2020 Contact Us