Variant Results

or

Results for "NSD1"

Variant Events: 26

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

NSD1

ASC_CA_135_A

chr5:
176636804-176636804

T

A

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.T1404A
c.T597A

p.H468Q
p.H199Q

10.03

-

Fu2022 E
Satterstrom2020 E

NSD1

SP0136950

chr5:
176562607-176562607

T

C

exonic

De novo

nonsynonymous SNV

NM_022455

c.T503C

p.M168T

10.7

-

Fu2022 E

NSD1

SP0105203

chr5:
176636824-176636824

G

A

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.G1424A
c.G617A

p.C475Y
p.C206Y

17.05

-

Fu2022 E

NSD1

SP0051671

chr5:
176719125-176719125

C

T

exonic

De novo

synonymous SNV

NM_022455
NM_172349

c.C6429T
c.C5622T

p.H2143H
p.H1874H

-

9.921E-5

Fu2022 E

NSD1

2-1154-003

chr5:
176634924-176634940

CGTGTGTGTGTGTGTGT

CGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

NSD1

SP0105324

chr5:
176637619-176637619

A

G

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.A2219G
c.A1412G

p.H740R
p.H471R

0.001

-

Fu2022 E

NSD1

3-0447-000

chr5:
176576691-176576691

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NSD1

Li2017:19568

chr5:
176678737-176678737

G

A

exonic

Unknown

nonsynonymous SNV

NM_022455
NM_172349

c.G4648A
c.G3841A

p.E1550K
p.E1281K

29.1

-

Li2017 T

NSD1

SMHC02016s000

chr5:
176631147-176631147

T

C

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.T1090C
c.T283C

p.Y364H
p.Y95H

28.0

-

Yuan2023 E

NSD1

SP0018376

chr5:
176562810-176562812

CAG

C

exonic

Inherited

frameshift deletion

NM_022455

c.707_708del

p.Q236fs

-

Feliciano2019 E

NSD1

A1338B

chr5:
176721337-176721337

C

T

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.C6968T
c.C6161T

p.A2323V
p.A2054V

10.18

-

Fu2022 E

NSD1

Li2017:17694

chr5:
176662905-176662905

C

T

exonic

Unknown

nonsynonymous SNV

NM_022455
NM_172349

c.C3880T
c.C3073T

p.P1294S
p.P1025S

21.4

1.652E-5

Li2017 T

NSD1

13143.p1

chr5:
176639097-176639097

C

T

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.C3697T
c.C2890T

p.R1233W
p.R964W

12.1

8.242E-6

Wilfert2021 G

NSD1

1-0329-004

chr5:
176723203-176723203

G

A

UTR3

De novo

-

Yuen2017 G

NSD1

2-0011-004

chr5:
176693255-176693255

C

T

intronic

De novo

-

Yuen2017 G

NSD1

AU0146302

chr5:
176574129-176574129

C

T

intronic

De novo

-

Yuen2017 G

NSD1

AU070007

chr5:
176658274-176658274

C

T

intronic

De novo

-

Yuen2017 G

NSD1

Lee2020:136

chr5:
176719045-176719045

C

T

exonic

stopgain

NM_022455
NM_172349

c.C6349T
c.C5542T

p.R2117X
p.R1848X

45.0

-

Lee2020 T

NSD1

EGAN00001101115

chr5:
176719132-176719132

T

C

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.T6436C
c.T5629C

p.C2146R
p.C1877R

26.6

-

Fu2022 E
Satterstrom2020 E

NSD1

AU3646301

chr5:
176562845-176562845

C

A

exonic

De novo

nonsynonymous SNV

NM_022455

c.C741A

p.S247R

14.21

-

Yuen2017 G

NSD1

NDAR_INVJP219FCV_wes1

chr5:
176684041-176684041

T

C

exonic

De novo

nonsynonymous SNV

NM_022455
NM_172349

c.T4855C
c.T4048C

p.C1619R
p.C1350R

23.1

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

NSD1

2-1281-003

chr5:
176716889-176716889

C

T

intronic

De novo

-

Yuen2017 G

NSD1

1-0675-003

chr5:
176612459-176612459

C

T

intronic

De novo

-

Yuen2017 G

NSD1

Yalcintepe2021:11

chr5:
176631127-176631127

A

G

exonic

nonsynonymous SNV

NM_022455
NM_172349

c.A1070G
c.A263G

p.N357S
p.N88S

13.05

8.24E-6

Yalcintepe2021 T

NSD1

1-0184-003

chr5:
176636718-176636718

C

T

exonic

De novo

stopgain

NM_022455
NM_172349

c.C1318T
c.C511T

p.R440X
p.R171X

13.64

-

Yuen2017 G

NSD1

A29

chr5:
176670310-176670310

C

T

intronic

De novo

-

Wu2018 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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