Variant Results

or

Results for "POU2F1"

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

POU2F1

REACH000154

chr1:
167266898-167266898

T

TC

intronic

De novo

-

Trost2022 G

POU2F1

1-0403-003

chr1:
167373583-167373583

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

AU3857301

chr1:
167271600-167271600

C

T

intronic

De novo

-

Trost2022 G

POU2F1

5-0015-003

chr1:
167309606-167309606

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

MSSNG00346-003

chr1:
167268198-167268198

C

T

intronic

De novo

-

Trost2022 G

POU2F1

1-0972-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G
Yuen2017 G

POU2F1

1-0972-003

chr1:
167282337-167282337

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

MSSNG00159-003

chr1:
167397308-167397309

GT

G

downstream

De novo

-

Trost2022 G

POU2F1

5-0025-003

chr1:
167295225-167295225

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

2-1174-005B

chr1:
167244085-167244085

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

1-0200-004

chr1:
167361233-167361234

CA

TC

intronic

De novo

-

Trost2022 G

POU2F1

3-0650-000

chr1:
167282698-167282698

T

C

intronic

De novo

-

Trost2022 G

POU2F1

AU0636303

chr1:
167239973-167239973

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

SJD_75.3

chr1:
167395396-167395396

G

A

UTR3

De novo

-

Trost2022 G

POU2F1

MSSNG00158-003

chr1:
167379398-167379398

T

C

intronic

De novo

-

Trost2022 G

POU2F1

2-1174-005B

chr1:
167244296-167244296

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

1-0757-003

chr1:
167257762-167257762

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

7-0501-003

chr1:
167381503-167381503

A

T

exonic

De novo

synonymous SNV

NM_001198786
NM_001198783
NM_002697

c.A1674T
c.A1830T
c.A1863T

p.L558L
p.L610L
p.L621L

-

Trost2022 G
Zhou2022 GE

POU2F1

SP0016966

chr1:
167370701-167370701

C

T

exonic

nonsynonymous SNV

NM_001198786
NM_001198783
NM_002697

c.C1274T
c.C1430T
c.C1463T

p.P425L
p.P477L
p.P488L

18.31

-

Zhou2022 GE

POU2F1

14263.p1

chr1:
167237318-167237318

C

G

intronic

De novo

-

Wilfert2021 G

POU2F1

3-0307-000

chr1:
167255337-167255337

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

2-0081-003

chr1:
167214684-167214685

CT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

1-0473-003

chr1:
167330868-167330868

C

CT

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU2F1

133344

chr1:
167367231-167367231

A

G

exonic

nonsynonymous SNV

NM_001198786
NM_001198783
NM_002697

c.A941G
c.A1097G
c.A1130G

p.E314G
p.E366G
p.E377G

21.2

1.659E-5

Woodbury-Smith2022 E

POU2F1

MT_160

chr1:
167384806-167384806

C

T

exonic

Maternal

nonsynonymous SNV

NM_001198786
NM_001198783
NM_002697

c.C1871T
c.C2027T
c.C2060T

p.A624V
p.A676V
p.A687V

23.5

2.0E-4

Toma2013 E

POU2F1

AU025704

chr1:
167327688-167327688

G

A

intronic

De novo

-

Trost2022 G
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
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