Variant Results

or

Results for "AFF2"

Variant Events: 25

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

AFF2

AU1328302

chrX:
148039954-148039954

C

G

exonic

Unknown

nonsynonymous SNV

NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025

c.C1579G
c.C2557G
c.C2551G
c.C2539G
c.C2626G
c.C2656G

p.P527A
p.P853A
p.P851A
p.P847A
p.P876A
p.P886A

24.7

0.0012

Chahrour2012 E

AFF2

ASD-667

chrX:
148038084-148038084

C

T

exonic

Maternal

nonsynonymous SNV

NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025

c.C1432T
c.C2410T
c.C2404T
c.C2392T
c.C2479T
c.C2509T

p.R478C
p.R804C
p.R802C
p.R798C
p.R827C
p.R837C

18.98

8.016E-5

Du2018 E

AFF2

Chen2021:2

chrX:
147919244-147919244

C

A

exonic

Unknown

nonsynonymous SNV

NM_001169123
NM_002025

c.C1148A
c.C1160A

p.S383Y
p.S387Y

16.32

1.15E-5

Chen2021 GET

AFF2

AU3398301

chrX:
147662996-147662998

TAC

T

intronic

De novo

-

Yuen2017 G

AFF2

1-0736-003

chrX:
148250704-148250704

C

T

intergenic

De novo

-

Yuen2017 G

AFF2

AU2427301

chrX:
148425015-148425015

C

T

intergenic

De novo

-

Yuen2017 G

AFF2

AU4103301

chrX:
148299034-148299034

C

T

intergenic

De novo

-

Yuen2017 G

AFF2

1-0935-003

chrX:
148535474-148535474

C

G

intergenic

De novo

-

Yuen2017 G

AFF2

5-0099-003

chrX:
148508916-148508916

C

G

intergenic

De novo

-

Yuen2017 G

AFF2

1-0572-003

chrX:
147698005-147698005

G

A

intronic

De novo

-

Yuen2017 G

AFF2

2-0713-003

chrX:
148426388-148426388

T

G

intergenic

De novo

-

Yuen2017 G

AFF2

Miyake2023:11198

chrX:
148037466-148037466

C

T

exonic

De novo

nonsynonymous SNV

NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025

c.C814T
c.C1792T
c.C1786T
c.C1774T
c.C1861T
c.C1891T

p.P272S
p.P598S
p.P596S
p.P592S
p.P621S
p.P631S

14.53

-

Miyake2023 E

AFF2

5-0054-003

chrX:
147696141-147696155

CCTTTCTTTCTTTCT

CCTTTCTTTCT

intronic

De novo

-

Yuen2017 G

AFF2

AU4239301

chrX:
147662743-147662762

ATATACGTATACGTATACGT

ATATACGTATACGT

intronic

De novo

-

Yuen2017 G

AFF2

AU-4400

chrX:
148044334-148044334

G

A

exonic

Inherited

nonsynonymous SNV

NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025

c.G1703A
c.G2681A
c.G2675A
c.G2663A
c.G2750A
c.G2780A

p.R568H
p.R894H
p.R892H
p.R888H
p.R917H
p.R927H

26.9

0.0015

Yu2013 E

AFF2

1-0976-003

chrX:
147877353-147877375

AAAAATATATATATATATATATA

AA

intronic

De novo

-

Yuen2017 G

AFF2

1-0677-003

chrX:
148418171-148418171

A

G

intergenic

De novo

-

Yuen2017 G

AFF2

1-0257-003

chrX:
148099166-148099166

T

G

intergenic

De novo

-

Yuen2017 G

AFF2

Hu2022:68

chrX:
147743835-147743835

T

C

exonic

Unknown

nonsynonymous SNV

NM_001169122
NM_001169123
NM_001169124
NM_001169125
NM_002025

c.T575C
c.T575C
c.T587C
c.T575C
c.T587C

p.F192S
p.F192S
p.F196S
p.F192S
p.F196S

11.51

-

Hu2022 T

AFF2

2-1269-003

chrX:
148069012-148069012

G

A

exonic

Inherited

nonsynonymous SNV

NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025

c.G2662A
c.G3634A
c.G3634A
c.G3622A
c.G3709A
c.G3739A

p.V888I
p.V1212I
p.V1212I
p.V1208I
p.V1237I
p.V1247I

27.9

1.141E-5

Jiang2013 G

AFF2

2-1436-003

chrX:
147869923-147869923

A

G

intronic

De novo

-

Yuen2017 G

AFF2

AU4006302

chrX:
148199372-148199385

GTATATATATATAT

GTATATATATATATAT

intergenic

De novo

-

Yuen2017 G

AFF2

Ishay2021:1

chrX:
147744029-147744029

C

T

exonic

Maternal

nonsynonymous SNV

NM_001169122
NM_001169123
NM_001169124
NM_001169125
NM_002025

c.C769T
c.C769T
c.C781T
c.C769T
c.C781T

p.P257S
p.P257S
p.P261S
p.P257S
p.P261S

8.491

-

Ishay2021 E

AFF2

2-1383-003

chrX:
148311181-148311181

T

C

intergenic

De novo

-

Yuen2017 G

AFF2

Miyake2023:20269

chrX:
148072819-148072819

G

A

exonic

De novo

nonsynonymous SNV

NM_001170628
NM_001169122
NM_001169124
NM_001169125
NM_001169123
NM_002025

c.G2816A
c.G3788A
c.G3788A
c.G3776A
c.G3863A
c.G3893A

p.R939H
p.R1263H
p.R1263H
p.R1259H
p.R1288H
p.R1298H

29.6

-

Miyake2023 E

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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