Variant Results

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Results for "TNFAIP3"

Variant Events: 15

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

TNFAIP3

SP0142710

chr6:
138200423-138200424

AT

A

exonic

De novo

frameshift deletion

NM_001270507
NM_001270508
NM_006290

c.1842delT
c.1842delT
c.1842delT

p.Y614fs
p.Y614fs
p.Y614fs

-

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

TNFAIP3

AU1860301

chr6:
138222178-138222178

C

T

intergenic

De novo

-

-

Yuen2017 G

TNFAIP3

1-0201-005

chr6:
138358074-138358074

G

A

intergenic

De novo

-

-

Yuen2017 G

TNFAIP3

2-1164-003

chr6:
138190773-138190773

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

TNFAIP3

TRE_2090

chr6:
138196108-138196108

G

A

exonic

De novo

nonsynonymous SNV

NM_001270507
NM_001270508
NM_006290

c.G422A
c.G422A
c.G422A

p.R141H
p.R141H
p.R141H

36.0

-

Fu2022 E

TNFAIP3

1-0595-004

chr6:
138405400-138405400

T

C

intergenic

De novo

-

-

Yuen2017 G

TNFAIP3

mAGRE5499

chr6:
138192497-138192497

C

T

exonic

Paternal

stopgain

NM_001270507
NM_001270508
NM_006290

c.C133T
c.C133T
c.C133T

p.R45X
p.R45X
p.R45X

28.0

-

Cirnigliaro2023 G

TNFAIP3

2-1375-003

chr6:
138391261-138391301

GGTGTGTGTGTGTGTGCGTGTGTGTGCGTGTGTGTGTGTGT

GGTGTGTGTGTGTGCGTGTGTGTGCGTGTGTGTGTGTGT

intergenic

De novo

-

-

Yuen2017 G

TNFAIP3

MSSNG00258-003

chr6:
138201735-138201735

C

T

intronic

De novo

-

-

Trost2022 G

TNFAIP3

1-0344-003

chr6:
138248449-138248449

C

T

intergenic

De novo

-

-

Yuen2017 G

TNFAIP3

mAGRE5500

chr6:
138192497-138192497

C

T

exonic

Paternal

stopgain

NM_001270507
NM_001270508
NM_006290

c.C133T
c.C133T
c.C133T

p.R45X
p.R45X
p.R45X

28.0

-

Cirnigliaro2023 G

TNFAIP3

2-1235-003

chr6:
138284868-138284868

C

T

intergenic

De novo

-

-

Yuen2017 G

TNFAIP3

AU2975302

chr6:
138347858-138347858

C

T

intergenic

De novo

-

-

Yuen2017 G

TNFAIP3

1-0366-003

chr6:
138196072-138196072

C

CGCTCAAGGAAACAGACA

exonic

De novo

frameshift insertion

NM_001270507
NM_001270508
NM_006290

c.386_387insGCTCAAGGAAACAGACA
c.386_387insGCTCAAGGAAACAGACA
c.386_387insGCTCAAGGAAACAGACA

p.T129fs
p.T129fs
p.T129fs

-

-

Yuen2015 G

TNFAIP3

A25

chr6:
138206013-138206013

C

T

intergenic

De novo

-

-

Wu2018 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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