Variant Results

or

Results for "NR2F1"

Variant Events: 13

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

NR2F1

NDAR_INVKR166GJL_wes1

chr5:
92921034-92921034

C

T

exonic

De novo

nonsynonymous SNV

NM_005654

c.C305T

p.T102I

25.9

9.888E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NR2F1

DEASD_0079_001

chr5:
92923690-92923690

C

G

exonic

De novo

nonsynonymous SNV

NM_005654

c.C531G

p.D177E

15.37

-

Lim2017 E

NR2F1

Chen2017:92

chr5:
92920811-92920811

C

T

exonic

De novo

stopgain

NM_005654

c.C82T

p.Q28X

50.0

-

Chen2017 E

NR2F1

11063.p1

chr5:
92929487-92929487

G

A

exonic

De novo

nonsynonymous SNV

NM_005654

c.G1211A

p.R404H

28.5

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

NR2F1

SMHC01763d000

chr5:
92920748-92920771

AGCTGGCGAGATCCGCAGGACGAC

A

exonic

De novo

frameshift deletion

NM_005654

c.20_42del

p.S7fs

-

Yuan2023 E

NR2F1

Husson2020:121

chr5:
92929460-92929460

G

C

exonic

nonsynonymous SNV

NM_005654

c.G1184C

p.G395A

25.9

-

Husson2020 E

NR2F1

SP0088523

chr5:
92923925-92923925

T

G

exonic

De novo

nonsynonymous SNV

NM_005654

c.T766G

p.W256G

24.2

-

Fu2022 E
Zhou2022 GE

NR2F1

SP0049392

chr5:
92929309-92929312

CAGG

C

exonic

De novo

nonframeshift deletion

NM_005654

c.1034_1036del

p.345_346del

-

Fu2022 E
Zhou2022 GE

NR2F1

SP0035532

chr5:
92929269-92929269

C

T

exonic

De novo

synonymous SNV

NM_005654

c.C993T

p.D331D

-

1.0E-4

Fu2022 E
Zhou2022 GE

NR2F1

11063_p1

chr5:
92929487-92929487

G

A

exonic

De novo

nonsynonymous SNV

NM_005654

c.G1211A

p.R404H

28.5

-

Fu2022 E

NR2F1

AU003403

chr5:
92922117-92922117

A

T

intronic

De novo

-

Yuen2017 G

NR2F1

5-5007-003

chr5:
92920853-92920853

C

T

exonic

stopgain

NM_005654

c.C124T

p.Q42X

50.0

-

Zhou2022 GE

NR2F1

2-1529-003

chr5:
92922455-92922455

C

T

intronic

De novo

-

Yuen2017 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
	More