Variant Results

or

Results for "POU6F2"

Variant Events: 81

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

POU6F2

MSSNG00011-003

chr7:
39098770-39098770

A

C

intronic

De novo

-

Trost2022 G

POU6F2

1-0028-003

chr7:
39567040-39567040

G

T

intergenic

De novo

-

Yuen2017 G

POU6F2

3-0061-000

chr7:
39100802-39100802

A

C

intronic

De novo

-

Trost2022 G

POU6F2

2-1336-003

chr7:
39376162-39376162

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

MT_19.3

chr7:
39068898-39068898

A

G

intronic

De novo

-

Trost2022 G

POU6F2

MSSNG00397-003

chr7:
39072037-39072037

A

G

intronic

De novo

-

Trost2022 G

POU6F2

7-0174-003

chr7:
39047953-39047953

C

T

intronic

De novo

-

Yuen2017 G

POU6F2

AU4242302

chr7:
39377975-39377975

A

G

intronic

De novo

-

Yuen2017 G

POU6F2

2-1464-003

chr7:
39043241-39043241

C

T

intronic

De novo

-

Trost2022 G

POU6F2

2-0197-004

chr7:
39452011-39452011

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

3-0666-001

chr7:
39214406-39214406

C

T

intronic

De novo

-

Trost2022 G

POU6F2

1-0019-004

chr7:
39407820-39407820

C

A

intronic

De novo

-

Yuen2017 G

POU6F2

5-5014-003

chr7:
39222274-39222274

C

A

intronic

De novo

-

Trost2022 G

POU6F2

MSSNG00424-004

chr7:
39196157-39196157

G

C

intronic

De novo

-

Trost2022 G

POU6F2

1-0218-004

chr7:
39328552-39328552

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

1-1189-003

chr7:
39201741-39201741

G

T

intronic

De novo

-

Trost2022 G

POU6F2

1-1206-003

chr7:
39162839-39162839

T

G

intronic

De novo

-

Trost2022 G

POU6F2

2-1169-004

chr7:
39187721-39187724

CAGC

GGCA

intronic

De novo

-

Trost2022 G

POU6F2

MSSNG00350-004

chr7:
39111925-39111925

C

A

intronic

De novo

-

Trost2022 G

POU6F2

3-0146-000

chr7:
39151856-39151859

CAGG

GTCTTT

intronic

De novo

-

Trost2022 G

POU6F2

MT_57.3

chr7:
39334906-39334906

G

A

intronic

De novo

-

Trost2022 G

POU6F2

5-5165-003

chr7:
39349500-39349500

T

G

intronic

De novo

-

Trost2022 G

POU6F2

MSSNG00037-003

chr7:
39323806-39323806

C

G

intronic

De novo

-

Trost2022 G

POU6F2

11565.p1

chr7:
39472990-39472990

G

C

intronic

De novo

-

Werling2018 G

POU6F2

AU3702307

chr7:
39324574-39324574

G

A

intronic

De novo

-

Trost2022 G

POU6F2

3-0228-000

chr7:
39293282-39293282

G

C

intronic

De novo

-

Trost2022 G

POU6F2

1-0067-004

chr7:
39299691-39299693

TTC

CAT

intronic

De novo

-

Trost2022 G

POU6F2

AU3849303

chr7:
39602793-39602793

A

G

intergenic

De novo

-

Yuen2017 G

POU6F2

REACH000380

chr7:
39253504-39253504

C

A

intronic

De novo

-

Trost2022 G

POU6F2

1-1195-003

chr7:
39260193-39260193

T

C

intronic

De novo

-

Trost2022 G

POU6F2

REACH000738

chr7:
39454066-39454066

A

G

intronic

De novo

-

Trost2022 G

POU6F2

2-0102-004

chr7:
39457625-39457626

TC

CT

intronic

De novo

-

Trost2022 G

POU6F2

4-0064-004

chr7:
39451574-39451574

G

T

intronic

De novo

-

Trost2022 G

POU6F2

2-0270-004

chr7:
39593247-39593247

C

T

intergenic

De novo

-

Yuen2017 G

POU6F2

7-0427-003

chr7:
39432876-39432876

G

A

intronic

De novo

-

Trost2022 G

POU6F2

1-0753-003

chr7:
39437984-39437984

T

A

intronic

De novo

-

Trost2022 G

POU6F2

1-0340-004

chr7:
39376762-39376765

CTTT

C

intronic

De novo

-

Trost2022 G

POU6F2

MSSNG00122-003

chr7:
39390918-39390918

C

T

intronic

De novo

-

Trost2022 G

POU6F2

1-0382-004

chr7:
39546507-39546507

A

C

intergenic

De novo

-

Yuen2017 G

POU6F2

1-0467-003

chr7:
39268489-39268489

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

2-1173-003

chr7:
39208352-39208352

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

AU3862305

chr7:
39086851-39086851

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

2-0306-004

chr7:
39506606-39506606

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

2-1389-003

chr7:
39261135-39261135

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

POU6F2

MSSNG00158-003

chr7:
39487838-39487838

A

G

intronic

De novo

-

Trost2022 G

POU6F2

2-0003-004

chr7:
39340905-39340905

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

2-0306-003

chr7:
39506606-39506606

A

G

intergenic

De novo

-

Yuen2016 G

POU6F2

1-0494-003A

chr7:
39247436-39247436

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

AU047703

chr7:
39325996-39325996

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

SP0008615

chr7:
39503884-39503884

G

T

exonic

De novo

nonsynonymous SNV

NM_007252

c.G1675T

p.A559S

6.302

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

POU6F2

1-0200-004

chr7:
39247164-39247164

G

C

exonic

De novo

synonymous SNV

NM_001166018
NM_007252

c.G456C
c.G456C

p.L152L
p.L152L

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

POU6F2

1-0408-003

chr7:
39520939-39520939

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

POU6F2

7-0059-003

chr7:
39370314-39370314

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

1572023

chr7:
39500265-39500265

G

T

exonic

De novo

nonsynonymous SNV

NM_001166018
NM_007252

c.G1522T
c.G1522T

p.A508S
p.A508S

18.79

2.0E-4

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

POU6F2

1-0665-003

chr7:
39550636-39550642

AGAACAG

A

intergenic

De novo

-

Yuen2017 G

POU6F2

AU066206

chr7:
39145029-39145029

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

1-0494-003

chr7:
39247436-39247436

A

G

intronic

De novo

-

Yuen2017 G

POU6F2

1-0279-004

chr7:
39289297-39289297

C

CA

intronic

De novo

-

Yuen2017 G

POU6F2

AU3874303

chr7:
39174874-39174874

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

A20

chr7:
39537428-39537428

G

A

intergenic

De novo

-

Wu2018 G

POU6F2

2-1206-003

chr7:
39062638-39062638

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

POU6F2

3-0456-000

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2016 G
Yuen2017 G

POU6F2

3-0456-000B

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Yuen2017 G

POU6F2

2-1718-003

chr7:
39187178-39187178

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

2-1407-003

chr7:
39489936-39489936

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

POU6F2

AU079605

chr7:
39064518-39064518

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

AU4315302

chr7:
39413688-39413688

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

3-0437-000

chr7:
39143507-39143509

GAA

G

intronic

De novo

-

Trost2022 G
Yuen2016 G

POU6F2

2-1592-003

chr7:
39598572-39598572

G

A

intergenic

De novo

-

Yuen2017 G

POU6F2

mAGRE4975

chr7:
39504218-39504223

AACAGC

A

exonic

Paternal

frameshift deletion

NM_001166018
NM_007252

c.1902_1906del
c.2010_2014del

p.K634fs
p.K670fs

-

Cirnigliaro2023 G

POU6F2

mAGRE4974

chr7:
39504218-39504223

AACAGC

A

exonic

Paternal

frameshift deletion

NM_001166018
NM_007252

c.1902_1906del
c.2010_2014del

p.K634fs
p.K670fs

-

Cirnigliaro2023 G

POU6F2

13964.p1

chr7:
39437217-39437217

G

A

intronic

De novo

-

Turner2016 G

POU6F2

AU011604

chr7:
39306595-39306595

G

A

intronic

De novo

-

Yuen2017 G

POU6F2

14642.p1

chr7:
39437238-39437238

C

T

intronic

De novo

-

Turner2016 G

POU6F2

13515.p1

chr7:
39119585-39119585

G

A

intronic

De novo

-

Turner2016 G

POU6F2

1-0534-003

chr7:
39210735-39210735

C

G

intronic

De novo

-

Yuen2017 G

POU6F2

SP0083675

chr7:
39379343-39379343

C

G

exonic

De novo

nonsynonymous SNV

NM_001166018
NM_007252

c.C614G
c.C614G

p.P205R
p.P205R

9.208

-

Fu2022 E
Trost2022 G
Zhou2022 GE

POU6F2

14370.p1

chr7:
39151376-39151376

T

C

intronic

De novo

-

Turner2016 G

POU6F2

2-1129-003

chr7:
39019406-39019406

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

AU060403

chr7:
39465965-39465965

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

POU6F2

AU3725302

chr7:
39030905-39030905

C

T

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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