Variant Results

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Results for "NFKB1"

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

NFKB1

1-0458-005

chr4:
103511572-103511573

CA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NFKB1

ASC_CA_60_A

chr4:
103534531-103534531

C

T

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

NFKB1

1-0261-004

chr4:
103451413-103451414

CA

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NFKB1

Kim2020:B25

chr4:
103528408-103528408

G

A

exonic

De novo

nonsynonymous SNV

NM_001165412
NM_003998

c.G2053A
c.G2056A

p.G685R
p.G686R

24.7

-

Kim2020 E

NFKB1

1-0278-003

chr4:
103464839-103464839

T

C

intronic

De novo

-

-

Yuen2016 G

NFKB1

1-0278-003A

chr4:
103464839-103464839

T

C

intronic

De novo

-

-

Trost2022 G

NFKB1

1-0469-005

chr4:
103492984-103492984

C

CAG

intronic

De novo

-

-

Yuen2017 G

NFKB1

3-0307-000

chr4:
103542603-103542603

G

A

intergenic

De novo

-

-

Yuen2017 G

NFKB1

MSSNG00035-004

chr4:
103495607-103495607

T

C

intronic

De novo

-

-

Trost2022 G

NFKB1

4-0062-003

chr4:
103431173-103431174

GA

TG

intronic

De novo

-

-

Trost2022 G

NFKB1

SJD_50.3

chr4:
103449962-103449962

C

T

intronic

De novo

-

-

Trost2022 G

NFKB1

AU1668302

chr4:
103452735-103452735

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NFKB1

1000277666704035-C

chr4:
103528267-103528267

G

A

intronic

De novo

-

-

Fu2022 E

NFKB1

1-0700-003A

chr4:
103528330-103528331

AT

A

exonic

De novo

frameshift deletion

NM_001165412
NM_003998

c.1976delT
c.1979delT

p.M659fs
p.M660fs

-

-

Trost2022 G
Zhou2022 GE

NFKB1

2-1521-003

chr4:
103448617-103448617

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

Source Variant Information

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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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