Variant Results

or

Results for "NFIB"

Variant Events: 78

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

NFIB

SSC11350

chr9:
14150143-14150143

C

T

splicing

20.8

-

Antaki2022 GE

NFIB

1-1102-003

chr9:
14185105-14185105

A

G

intronic

De novo

-

Trost2022 G

NFIB

1-0944-003

chr9:
14186432-14186432

A

G

intronic

De novo

-

Trost2022 G

NFIB

AU4176302

chr9:
14270237-14270237

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

MSSNG00208-003

chr9:
14171544-14171544

A

G

intronic

De novo

-

Trost2022 G

NFIB

2-1290-004

chr9:
14194329-14194329

T

TCTC

intronic

De novo

-

Yuen2017 G

NFIB

36153

chr9:
14150143-14150143

C

T

splicing

De novo

splicing

20.8

-

Fu2022 E
Trost2022 G

NFIB

4-0049-003

chr9:
14175909-14175909

G

T

intronic

De novo

-

Trost2022 G

NFIB

MSSNG00208-003

chr9:
14163545-14163545

T

G

intronic

De novo

-

Trost2022 G

NFIB

2-1491-003

chr9:
14167404-14167404

C

T

intronic

De novo

-

Trost2022 G

NFIB

2-0272-003

chr9:
14302136-14302136

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

3-0305-000

chr9:
14156715-14156715

C

T

intronic

De novo

-

Trost2022 G

NFIB

MSSNG00208-003

chr9:
14161420-14161420

C

G

intronic

De novo

-

Trost2022 G

NFIB

4-0062-003

chr9:
14270650-14270650

A

C

intronic

De novo

-

Trost2022 G

NFIB

REACH000120

chr9:
14274298-14274298

T

C

intronic

De novo

-

Trost2022 G

NFIB

AU039304

chr9:
14230999-14230999

A

T

intronic

De novo

-

Trost2022 G

NFIB

MSSNG00224-003

chr9:
14265568-14265569

GA

G

intronic

De novo

-

Trost2022 G

NFIB

MT_25.3

chr9:
14223493-14223494

AT

A

intronic

De novo

-

Trost2022 G

NFIB

MT_25.3

chr9:
14223503-14223503

G

T

intronic

De novo

-

Trost2022 G

NFIB

REACH000141

chr9:
14195189-14195189

C

T

intronic

De novo

-

Trost2022 G

NFIB

1-1005-004

chr9:
14221944-14221944

T

G

intronic

De novo

-

Trost2022 G

NFIB

AU4033303

chr9:
14509002-14509002

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

SP0250552

chr9:
14313505-14313505

C

T

exonic

De novo

nonsynonymous SNV

NM_001190737
NM_005596

c.G6A
c.G6A

p.M2I
p.M2I

19.22

-

Trost2022 G

NFIB

SP0035185

chr9:
14314061-14314061

G

C

intronic

De novo

-

Trost2022 G

NFIB

3931021220041-C

chr9:
14150062-14150062

C

A

intronic

De novo

-

Fu2022 E

NFIB

14-1011

chr9:
14295075-14295075

G

T

intronic

De novo

-

Trost2022 G

NFIB

1-0139-003

chr9:
14415825-14415825

G

A

intergenic

De novo

-

Yuen2017 G

NFIB

AU4159301

chr9:
14149323-14149323

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

MSSNG00102-003

chr9:
14308443-14308443

T

A

intronic

De novo

-

Trost2022 G

NFIB

AU4306302

chr9:
14308459-14308459

C

A

intronic

De novo

-

Yuen2017 G

NFIB

MSSNG00258-004

chr9:
14294656-14294656

C

T

intronic

De novo

-

Trost2022 G

NFIB

14-1011

chr9:
14295070-14295071

CA

C

intronic

De novo

-

Trost2022 G

NFIB

1-0616-003

chr9:
14276847-14276848

CT

C

intronic

De novo

-

Trost2022 G

NFIB

AU2168301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

NFIB

7-0392-005

chr9:
14412939-14412939

G

C

intergenic

De novo

-

Trost2022 G

NFIB

SSC05162

chr9:
14307297-14307297

G

A

exonic

Mosaic

nonsynonymous SNV

NM_001190737
NM_001190738
NM_005596

c.C253T
c.C331T
c.C253T

p.R85C
p.R111C
p.R85C

22.6

-

Lim2017 E

NFIB

MSSNG00041-003

chr9:
14425352-14425352

C

G

intergenic

De novo

-

Trost2022 G

NFIB

3-0775-000

chr9:
14376140-14376140

G

T

intronic

De novo

-

Trost2022 G

NFIB

2-0238-003

chr9:
14454362-14454362

G

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

2-1814-003

chr9:
14381391-14381391

T

C

intronic

De novo

-

Trost2022 G

NFIB

MT_25.3

chr9:
14348068-14348068

G

C

intronic

De novo

-

Trost2022 G

NFIB

3-0630-000

chr9:
14355547-14355547

A

G

intronic

De novo

-

Trost2022 G

NFIB

Lim2017:36153

chr9:
14150143-14150143

C

T

splicing

De novo

splicing

20.8

-

Lim2017 E

NFIB

3-0482-000

chr9:
14343778-14343778

G

A

intronic

De novo

-

Trost2022 G

NFIB

MSSNG00336-003

chr9:
14347297-14347297

G

A

intronic

De novo

-

Trost2022 G

NFIB

1-0287-003

chr9:
14512302-14512302

C

T

intergenic

De novo

-

Trost2022 G

NFIB

2-1290-003

chr9:
14194329-14194329

T

TCTC

intronic

De novo

-

Yuen2017 G

NFIB

2-1526-003

chr9:
14392315-14392315

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

AU2303301

chr9:
14524879-14524879

T

C

intergenic

De novo

-

Trost2022 G

NFIB

MSSNG00032-004

chr9:
14500224-14500224

C

T

intergenic

De novo

-

Trost2022 G

NFIB

1026

chr9:
14504143-14504143

G

T

intergenic

De novo

-

Trost2022 G

NFIB

MSSNG00241-003

chr9:
14478498-14478498

G

C

intergenic

De novo

-

Trost2022 G

NFIB

1-1109-003

chr9:
14493581-14493581

T

C

intergenic

De novo

-

Trost2022 G

NFIB

7-0095-004

chr9:
14534033-14534033

G

A

intergenic

De novo

-

Yuen2017 G

NFIB

1-0090-003

chr9:
14456099-14456099

G

A

intergenic

De novo

-

Trost2022 G

NFIB

1-1204-004

chr9:
14476704-14476704

A

T

intergenic

De novo

-

Trost2022 G

NFIB

MSSNG00439-003

chr9:
14529074-14529074

A

T

intergenic

De novo

-

Trost2022 G

NFIB

5-0050-004

chr9:
14116657-14116657

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

AU2863303

chr9:
14594019-14594019

A

T

intergenic

De novo

-

Yuen2017 G

NFIB

AU4344301

chr9:
14163601-14163607

CAAAAAA

CAAAAA

intronic

De novo

-

Yuen2017 G

NFIB

1-0539-003

chr9:
14572730-14572730

G

GGA

intergenic

De novo

-

Yuen2017 G

NFIB

1-0720-003

chr9:
14091364-14091364

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

1-0494-003A

chr9:
14162413-14162413

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

2-0704-003

chr9:
14244382-14244382

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NFIB

14385.p1

chr9:
14150143-14150143

C

T

splicing

De novo

splicing

20.8

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NFIB

SP0120673

chr9:
14398668-14398668

T

C

UTR5

De novo

-

Fu2022 E

NFIB

AU2410301

chr9:
14169345-14169345

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

1-0032-003

chr9:
14160968-14160968

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

1-0494-003

chr9:
14162413-14162413

A

G

intronic

De novo

-

Yuen2017 G

NFIB

1-0043-003

chr9:
14205284-14205284

A

AGG

intronic

De novo

-

Yuen2017 G

NFIB

2-1522-003

chr9:
14563809-14563809

G

A

intergenic

De novo

-

Yuen2017 G

NFIB

AU030804

chr9:
14274195-14274195

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NFIB

AU4164301

chr9:
14461820-14461820

C

T

intergenic

De novo

-

Yuen2017 G

NFIB

MSSNG00172-003

chr9:
14142526-14142526

C

T

intronic

De novo

-

Trost2022 G

NFIB

REACH000159

chr9:
14146518-14146520

CTT

C

intronic

De novo

-

Trost2022 G

NFIB

REACH000182

chr9:
14136809-14136809

G

T

intronic

De novo

-

Trost2022 G

NFIB

MSSNG00340-003

chr9:
14137623-14137623

C

T

intronic

De novo

-

Trost2022 G

NFIB

7-0161-003

chr9:
14113899-14113899

C

A

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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