Variant Results

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Results for "IKBKB"

Variant Events: 13

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

IKBKB

1-0393-003

chr8:
42144661-42144661

G

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IKBKB

AU3645301

chr8:
42159236-42159236

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IKBKB

1-0104-003

chr8:
42165733-42165733

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

IKBKB

5-5057-003

chr8:
42128695-42128695

C

A

upstream

De novo

-

-

Trost2022 G

IKBKB

SP0008770

chr8:
42179661-42179661

A

T

exonic

De novo

nonsynonymous SNV

NM_001190720
NM_001242778
NM_001556

c.A1822T
c.A1651T
c.A1828T

p.T608S
p.T551S
p.T610S

6.399

-

Fu2022 E
Trost2022 G
Zhou2022 GE

IKBKB

SSC12362

chr8:
42179637-42179637

G

A

exonic

De novo

nonsynonymous SNV

NM_001190720
NM_001242778
NM_001556

c.G1798A
c.G1627A
c.G1804A

p.E600K
p.E543K
p.E602K

36.0

-

Fu2022 E
Lim2017 E
Trost2022 G

IKBKB

1024

chr8:
42175812-42175812

A

G

intronic

De novo

-

-

Trost2022 G

IKBKB

SP0000760

chr8:
42179767-42179767

A

G

intronic

De novo

-

-

Fu2022 E

IKBKB

1044

chr8:
42135300-42135300

T

C

intronic

De novo

-

-

Trost2022 G

IKBKB

2-1464-003

chr8:
42167641-42167641

A

G

intronic

De novo

-

-

Trost2022 G

IKBKB

08C72662

chr8:
42174467-42174467

G

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

IKBKB

PN400495

chr8:
42171940-42171940

C

T

exonic

Unknown

nonsynonymous SNV

NM_001190720
NM_001242778
NM_001556

c.C787T
c.C616T
c.C793T

p.L263F
p.L206F
p.L265F

24.0

-

Leblond2019 E

IKBKB

14634.p1

chr8:
42179637-42179637

G

A

exonic

De novo

nonsynonymous SNV

NM_001190720
NM_001242778
NM_001556

c.G1798A
c.G1627A
c.G1804A

p.E600K
p.E543K
p.E602K

36.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

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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