Variant Results

or

Results for "AFF4"

Variant Events: 14

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

AFF4

AU073006

chr5:
132319297-132319297

G

A

intergenic

De novo

-

Yuen2017 G

AFF4

11851.p1

chr5:
132228680-132228680

T

A

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

AFF4

AU031404

chr5:
132297694-132297700

AAAGAAG

AAAG

intronic

De novo

-

Yuen2017 G

AFF4

Mahjani2021:28

chr5:
132216864-132216864

G

T

exonic

nonsynonymous SNV

NM_014423

c.C3379A

p.L1127M

12.92

-

Mahjani2021 E

AFF4

2-1086-004

chr5:
132288327-132288327

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

AFF4

SP0005740

chr5:
132269902-132269902

A

C

exonic

De novo

synonymous SNV

NM_014423

c.T855G

p.T285T

7.313

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AFF4

SSC05143

chr5:
132223552-132223552

C

T

exonic

De novo

synonymous SNV

NM_014423

c.G2919A

p.T973T

-

8.319E-6

Fu2022 E
Lim2017 E
Trost2022 G

AFF4

SP0124157

chr5:
132272757-132272757

A

C

splicing

De novo

splicing

18.79

-

Fu2022 E
Trost2022 G
Zhou2022 GE

AFF4

1-0299-004

chr5:
132212041-132212041

T

C

UTR3

De novo

-

Trost2022 G
Yuen2017 G

AFF4

12680.p1

chr5:
132223552-132223552

C

T

exonic

De novo

synonymous SNV

NM_014423

c.G2919A

p.T973T

-

8.319E-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Turner2016 G
Zhou2022 GE

AFF4

MT_182.4

chr5:
132281206-132281206

G

A

intronic

De novo

-

Trost2022 G

AFF4

3-0102-000

chr5:
132298935-132298935

T

G

intronic

De novo

-

Trost2022 G

AFF4

1-1149-003

chr5:
132256188-132256188

T

C

intronic

De novo

-

Trost2022 G

AFF4

4-0086-003

chr5:
132280913-132280913

A

G

intronic

De novo

-

Trost2022 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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