Variant Results

or

Results for "FOXP2"

Variant Events: 48

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

FOXP2

SP0014319

chr7:
114299735-114299735

A

T

intronic

De novo

-

Trost2022 G

FOXP2

MSSNG00255-003

chr7:
114312979-114312979

C

G

intronic

De novo

-

Trost2022 G

FOXP2

1-1129-003

chr7:
114281955-114281955

G

C

intronic

De novo

-

Trost2022 G

FOXP2

SP0040315

chr7:
114293953-114293953

C

T

intronic

De novo

-

1.0E-4

Trost2022 G

FOXP2

3-0736-000

chr7:
114221194-114221194

A

T

intronic

De novo

-

Trost2022 G

FOXP2

MSSNG00201-003

chr7:
114277536-114277536

T

TC

intronic

De novo

-

Trost2022 G

FOXP2

MSSNG00257-005

chr7:
114147767-114147767

G

A

intronic

De novo

-

Trost2022 G

FOXP2

AU4219302

chr7:
114555725-114555725

T

C

intergenic

De novo

-

Yuen2017 G

FOXP2

4-0062-003

chr7:
114175002-114175003

GT

CC

intronic

De novo

-

Trost2022 G

FOXP2

AU1860301

chr7:
114164940-114164940

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOXP2

1-0564-003

chr7:
114271579-114271605

CCAGCAGCAGCAGCAGCAGCAGCAGCA

CCAGCAGCAGCAGCAGCAGCAGCA

exonic

De novo

nonframeshift deletion

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.618_620del
c.615_617del
c.693_695del
c.618_620del
c.693_695del
c.669_671del

p.206_207del
p.205_206del
p.231_232del
p.206_207del
p.231_232del
p.223_224del

-

Yuen2017 G

FOXP2

Lim2017:11010

chr7:
114298286-114298286

C

T

exonic

De novo

stopgain

NM_001172766
NM_014491
NM_148898
NM_148900

c.C1429T
c.C1432T
c.C1507T
c.C1483T

p.R477X
p.R478X
p.R503X
p.R495X

38.0

-

Lim2017 E

FOXP2

A8

chr7:
114261089-114261089

A

G

intronic

De novo

-

Wu2018 G

FOXP2

14595.p1

chr7:
114269649-114269649

T

TT

exonic

Paternal

frameshift insertion

NM_148900

c.399dupT

p.D133fs

-

O’Roak2012a T

FOXP2

AU3849303

chr7:
114196802-114196802

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOXP2

AU3885304

chr7:
114332543-114332543

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

FOXP2

Alvarez-Mora2016:ASD-56

chr7:
114268687-114268687

G

T

exonic

Paternal

nonsynonymous SNV

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148900
NM_148898

c.G351T
c.G351T
c.G426T
c.G351T
c.G351T
c.G426T

p.Q117H
p.Q117H
p.Q142H
p.Q117H
p.Q117H
p.Q142H

14.82

-

Alvarez-Mora2016 T

FOXP2

Hu2022:42

chr7:
114174736-114174736

G

C

exonic

Unknown

nonsynonymous SNV

NM_001172767
NM_148899
NM_001172766
NM_014491
NM_148898
NM_148900

c.G233C
c.G233C
c.G233C
c.G233C
c.G233C
c.G233C

p.S78T
p.S78T
p.S78T
p.S78T
p.S78T
p.S78T

10.64

-

Hu2022 T

FOXP2

Krgovic2022:024441

chr7:
114299680-114299680

G

A

exonic

Unknown

stopgain

NM_001172766
NM_014491
NM_148898
NM_148900

c.G1596A
c.G1599A
c.G1674A
c.G1650A

p.W532X
p.W533X
p.W558X
p.W550X

39.0

-

Krgovic2022 E

FOXP2

Schaaf2011:26

chr7:
114304425-114304425

A

G

exonic

Unknown

nonsynonymous SNV

NM_001172766
NM_014491
NM_148898
NM_148900

c.A1934G
c.A1937G
c.A2012G
c.A1988G

p.N645S
p.N646S
p.N671S
p.N663S

14.59

2.0E-4

Schaaf2011 T

FOXP2

Schaaf2011:27

chr7:
114329917-114329917

A

C

exonic

De novo

nonsynonymous SNV

NM_001172766
NM_014491
NM_148898
NM_148900

c.A2081C
c.A2084C
c.A2159C
c.A2135C

p.H694P
p.H695P
p.H720P
p.H712P

13.36

-

Schaaf2011 T

FOXP2

Schaaf2011:25

chr7:
114294044-114294044

C

A

exonic

Unknown

nonsynonymous SNV

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.C1246A
c.C1243A
c.C1321A
c.C1246A
c.C1321A
c.C1297A

p.P416T
p.P415T
p.P441T
p.P416T
p.P441T
p.P433T

17.1

8.242E-6

Schaaf2011 T

FOXP2

Schaaf2011:28

chr7:
114329933-114329933

A

T

exonic

Unknown

nonsynonymous SNV

NM_001172766
NM_014491
NM_148898
NM_148900

c.A2097T
c.A2100T
c.A2175T
c.A2151T

p.E699D
p.E700D
p.E725D
p.E717D

2.847

6.611E-5

Schaaf2011 T

FOXP2

2-1406-003

chr7:
114209276-114209276

A

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FOXP2

Schaaf2011:103

chr7:
114271605-114271605

A

AAGC

exonic

De novo

nonframeshift insertion

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.620_621insAGC
c.617_618insAGC
c.695_696insAGC
c.620_621insAGC
c.695_696insAGC
c.671_672insAGC

p.Q207delinsQA
p.Q206delinsQA
p.Q232delinsQA
p.Q207delinsQA
p.Q232delinsQA
p.Q224delinsQA

-

Schaaf2011 T

FOXP2

1-0551-004

chr7:
114533428-114533428

T

TTGG

intergenic

De novo

-

Yuen2017 G

FOXP2

SF0134162.p1

chr7:
114299670-114299670

T

C

exonic

nonsynonymous SNV

NM_001172766
NM_014491
NM_148898
NM_148900

c.T1586C
c.T1589C
c.T1664C
c.T1640C

p.I529T
p.I530T
p.I555T
p.I547T

12.22

-

Wang2020 T

FOXP2

AU4483301

chr7:
114524465-114524465

C

A

intergenic

De novo

-

Yuen2017 G

FOXP2

SP0132341

chr7:
114292182-114292182

G

A

intronic

De novo

-

Fu2022 E

FOXP2

AU4310301

chr7:
114382371-114382371

T

C

intergenic

De novo

-

Yuen2017 G

FOXP2

SP0134162

chr7:
114299670-114299670

T

C

exonic

De novo

nonsynonymous SNV

NM_001172766
NM_014491
NM_148898
NM_148900

c.T1586C
c.T1589C
c.T1664C
c.T1640C

p.I529T
p.I530T
p.I555T
p.I547T

12.22

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FOXP2

AU4359301

chr7:
114496796-114496796

G

A

intergenic

De novo

-

Yuen2017 G

FOXP2

AU076508

chr7:
114232383-114232383

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOXP2

11010

chr7:
114298286-114298286

C

T

exonic

De novo

stopgain

NM_001172766
NM_014491
NM_148898
NM_148900

c.C1429T
c.C1432T
c.C1507T
c.C1483T

p.R477X
p.R478X
p.R503X
p.R495X

38.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FOXP2

1-0446-003

chr7:
114295837-114295837

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOXP2

Mahjani2021:132

chr7:
114292289-114292289

C

T

exonic

stopgain

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.C1126T
c.C1123T
c.C1201T
c.C1126T
c.C1201T
c.C1177T

p.R376X
p.R375X
p.R401X
p.R376X
p.R401X
p.R393X

28.6

-

Mahjani2021 E

FOXP2

AU2162302

chr7:
114509761-114509761

C

T

intergenic

De novo

-

Yuen2017 G

FOXP2

11084.p1

chr7:
114269955-114269955

G

A

exonic

De novo

synonymous SNV

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.G492A
c.G492A
c.G567A
c.G492A
c.G567A
c.G543A

p.Q164Q
p.Q164Q
p.Q189Q
p.Q164Q
p.Q189Q
p.Q181Q

-

Krumm2015 E

FOXP2

5-1008-003

chr7:
114108055-114108058

GTTC

G

intronic

De novo

-

Trost2022 G

FOXP2

1-1084-003

chr7:
114113704-114113704

T

A

intronic

De novo

-

Trost2022 G

FOXP2

11084.p1

chr7:
114269976-114269976

A

ACAACAG

exonic

De novo

nonframeshift insertion

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.513_514insCAACAG
c.513_514insCAACAG
c.588_589insCAACAG
c.513_514insCAACAG
c.588_589insCAACAG
c.564_565insCAACAG

p.Q171delinsQQQ
p.Q171delinsQQQ
p.Q196delinsQQQ
p.Q171delinsQQQ
p.Q196delinsQQQ
p.Q188delinsQQQ

-

Krumm2015 E

FOXP2

P6Q4Z_01

chr7:
114059801-114059801

A

C

intronic

De novo

-

Trost2022 G

FOXP2

11084.p1

chr7:
114269967-114269967

G

A

exonic

De novo

synonymous SNV

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.G504A
c.G504A
c.G579A
c.G504A
c.G579A
c.G555A

p.Q168Q
p.Q168Q
p.Q193Q
p.Q168Q
p.Q193Q
p.Q185Q

-

Krumm2015 E

FOXP2

1-0075-003

chr7:
114176419-114176419

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FOXP2

SJD_50.4

chr7:
114089213-114089216

CATT

C

intronic

De novo

-

Trost2022 G

FOXP2

11084.p1

chr7:
114270006-114270006

G

A

exonic

De novo

synonymous SNV

NM_148899
NM_001172766
NM_001172767
NM_014491
NM_148898
NM_148900

c.G543A
c.G543A
c.G618A
c.G543A
c.G618A
c.G594A

p.Q181Q
p.Q181Q
p.Q206Q
p.Q181Q
p.Q206Q
p.Q198Q

-

Krumm2015 E

FOXP2

1693001

chr7:
114302129-114302129

C

T

exonic

De novo

nonsynonymous SNV

NM_001172766
NM_014491
NM_148898
NM_148900

c.C1654T
c.C1657T
c.C1732T
c.C1708T

p.R552C
p.R553C
p.R578C
p.R570C

18.04

8.298E-6

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FOXP2

Hu2022:69

chr7:
114303569-114303569

T

A

exonic

Unknown

nonsynonymous SNV

NM_001172766
NM_014491
NM_148898
NM_148900

c.T1831A
c.T1834A
c.T1909A
c.T1885A

p.L611M
p.L612M
p.L637M
p.L629M

11.22

-

Hu2022 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 notes	View
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