Variant Results

or

Results for "AFF3"

Variant Events: 40

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

AFF3

AU007503

chr2:
100265101-100265101

A

G

intronic

De novo

-

Yuen2017 G

AFF3

2-1411-003

chr2:
100659907-100659907

C

T

intronic

De novo

-

Yuen2017 G

AFF3

AU1940304

chr2:
100401142-100401142

T

A

intronic

De novo

-

Yuen2017 G

AFF3

AU2381302

chr2:
100783067-100783067

T

G

intergenic

De novo

-

Yuen2017 G

AFF3

1-0534-003

chr2:
100812549-100812549

T

C

intergenic

De novo

-

Yuen2017 G

AFF3

1-0010-005

chr2:
100360983-100360983

T

C

intronic

De novo

-

Yuen2017 G

AFF3

1-0473-003

chr2:
100492936-100492936

T

C

intronic

De novo

-

Yuen2017 G

AFF3

2-1276-003

chr2:
100591507-100591507

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AFF3

AU2019302

chr2:
100390758-100390758

C

T

intronic

De novo

-

Yuen2017 G

AFF3

AU3680302

chr2:
100645221-100645221

C

T

intronic

De novo

-

Yuen2017 G

AFF3

2-0323-004

chr2:
100246764-100246764

G

A

intronic

De novo

-

Yuen2017 G

AFF3

2-0126-004

chr2:
100634970-100634970

G

T

intronic

De novo

-

Yuen2017 G

AFF3

7-0002-003

chr2:
100793102-100793102

T

C

intergenic

De novo

-

Yuen2017 G

AFF3

AU024104

chr2:
100641334-100641334

T

G

intronic

De novo

-

Yuen2017 G

AFF3

1-0273-004

chr2:
100633282-100633282

G

GATGGCA

intronic

De novo

-

Yuen2017 G

AFF3

AU3610302

chr2:
100606462-100606462

A

G

intronic

De novo

-

Yuen2017 G

AFF3

2-1514-003

chr2:
100682806-100682806

C

T

intronic

De novo

-

Yuen2017 G

AFF3

AU4234302

chr2:
100389232-100389232

A

G

intronic

De novo

-

Yuen2017 G

AFF3

74-0075

chr2:
100265101-100265101

A

G

intronic

De novo

-

Michaelson2012 G

AFF3

1-0383-003

chr2:
100251923-100251940

TTGTGTGTGTGTGTGTGT

TTGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

AFF3

7-0133-003

chr2:
100437472-100437472

T

C

intronic

De novo

-

Yuen2017 G

AFF3

AU2109302

chr2:
100574460-100574460

T

C

intronic

De novo

-

Yuen2017 G

AFF3

2-1184-003

chr2:
100344315-100344315

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AFF3

1-0546-003

chr2:
100732931-100732931

G

A

intronic

De novo

-

Yuen2017 G

AFF3

1-0585-003

chr2:
100251281-100251281

A

G

intronic

De novo

-

Yuen2017 G

AFF3

2-1085-004

chr2:
100230574-100230574

T

G

intronic

De novo

-

Yuen2017 G

AFF3

2-1461-003

chr2:
100308757-100308757

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AFF3

2-1438-003

chr2:
100340821-100340821

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

AFF3

2-1416-004

chr2:
100631232-100631233

AC

A

intronic

De novo

-

Yuen2017 G

AFF3

2-1629-003

chr2:
100365078-100365078

G

A

intronic

De novo

-

Yuen2017 G

AFF3

SP0096551

chr2:
100266083-100266083

T

C

intronic

De novo

-

8.253E-6

Fu2022 E

AFF3

2-1188-003

chr2:
100355596-100355596

A

G

intronic

De novo

-

Yuen2017 G

AFF3

2-1416-003

chr2:
100631232-100631233

AC

A

intronic

De novo

-

Yuen2017 G

AFF3

3E467

chr2:
100623255-100623255

T

C

exonic

De novo

nonsynonymous SNV

NM_001025108
NM_002285

c.A787G
c.A712G

p.M263V
p.M238V

16.13

-

Fu2022 E
Satterstrom2020 E

AFF3

NDAR_INVWJ774DL8_wes1

chr2:
100171213-100171213

A

G

intronic

De novo

-

0.0098

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

AFF3

A28

chr2:
100417666-100417666

G

A

intronic

De novo

-

Wu2018 G

AFF3

1-0271-004

chr2:
100778255-100778255

T

C

intergenic

De novo

-

Yuen2017 G

AFF3

AU3371302

chr2:
100221385-100221385

C

T

intronic

De novo

-

Yuen2017 G

AFF3

SP0015356

chr2:
100210613-100210614

CG

C

exonic

De novo

frameshift deletion

NM_001025108
NM_002285

c.1584delC
c.1509delC

p.D528fs
p.D503fs

-

Feliciano2019 E
Fu2022 E

AFF3

1-0150-004

chr2:
100539892-100539892

G

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
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