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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     SSC11350chr9:
14150143-14150143
CTsplicingsplicing20.8-Antaki2022 GE
NFIB     1-1102-003chr9:
14185105-14185105
AGintronicDe novo--Trost2022 G
NFIB     1-0944-003chr9:
14186432-14186432
AGintronicDe novo--Trost2022 G
NFIB     AU4176302chr9:
14270237-14270237
TCintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     MSSNG00208-003chr9:
14171544-14171544
AGintronicDe novo--Trost2022 G
NFIB     2-1290-004chr9:
14194329-14194329
TTCTCintronicDe novo--Yuen2017 G
NFIB     36153chr9:
14150143-14150143
CTsplicingDe novosplicing20.8-Fu2022 E
Trost2022 G
NFIB     4-0049-003chr9:
14175909-14175909
GTintronicDe novo--Trost2022 G
NFIB     MSSNG00208-003chr9:
14163545-14163545
TGintronicDe novo--Trost2022 G
NFIB     2-1491-003chr9:
14167404-14167404
CTintronicDe novo--Trost2022 G
NFIB     2-0272-003chr9:
14302136-14302136
TAintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     3-0305-000chr9:
14156715-14156715
CTintronicDe novo--Trost2022 G
NFIB     MSSNG00208-003chr9:
14161420-14161420
CGintronicDe novo--Trost2022 G
NFIB     4-0062-003chr9:
14270650-14270650
ACintronicDe novo--Trost2022 G
NFIB     REACH000120chr9:
14274298-14274298
TCintronicDe novo--Trost2022 G
NFIB     AU039304chr9:
14230999-14230999
ATintronicDe novo--Trost2022 G
NFIB     MSSNG00224-003chr9:
14265568-14265569
GAGintronicDe novo--Trost2022 G
NFIB     MT_25.3chr9:
14223493-14223494
ATAintronicDe novo--Trost2022 G
NFIB     MT_25.3chr9:
14223503-14223503
GTintronicDe novo--Trost2022 G
NFIB     REACH000141chr9:
14195189-14195189
CTintronicDe novo--Trost2022 G
NFIB     1-1005-004chr9:
14221944-14221944
TGintronicDe novo--Trost2022 G
NFIB     AU4033303chr9:
14509002-14509002
CTintergenicDe novo--Trost2022 G
Yuen2017 G
NFIB     SP0250552chr9:
14313505-14313505
CTexonicDe novononsynonymous SNVNM_001190737
NM_005596
c.G6A
c.G6A
p.M2I
p.M2I
19.22-Trost2022 G
NFIB     SP0035185chr9:
14314061-14314061
GCintronicDe novo--Trost2022 G
NFIB     3931021220041-Cchr9:
14150062-14150062
CAintronicDe novo--Fu2022 E
NFIB     14-1011chr9:
14295075-14295075
GTintronicDe novo--Trost2022 G
NFIB     1-0139-003chr9:
14415825-14415825
GAintergenicDe novo--Yuen2017 G
NFIB     AU4159301chr9:
14149323-14149323
CTintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     MSSNG00102-003chr9:
14308443-14308443
TAintronicDe novo--Trost2022 G
NFIB     AU4306302chr9:
14308459-14308459
CAintronicDe novo--Yuen2017 G
NFIB     MSSNG00258-004chr9:
14294656-14294656
CTintronicDe novo--Trost2022 G
NFIB     14-1011chr9:
14295070-14295071
CACintronicDe novo--Trost2022 G
NFIB     1-0616-003chr9:
14276847-14276848
CTCintronicDe novo--Trost2022 G
NFIB     AU2168301 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
NFIB     7-0392-005chr9:
14412939-14412939
GCintergenicDe novo--Trost2022 G
NFIB     SSC05162chr9:
14307297-14307297
GAexonicMosaicnonsynonymous SNVNM_001190737
NM_001190738
NM_005596
c.C253T
c.C331T
c.C253T
p.R85C
p.R111C
p.R85C
22.6-Lim2017 E
NFIB     MSSNG00041-003chr9:
14425352-14425352
CGintergenicDe novo--Trost2022 G
NFIB     3-0775-000chr9:
14376140-14376140
GTintronicDe novo--Trost2022 G
NFIB     2-0238-003chr9:
14454362-14454362
GTintergenicDe novo--Trost2022 G
Yuen2017 G
NFIB     2-1814-003chr9:
14381391-14381391
TCintronicDe novo--Trost2022 G
NFIB     MT_25.3chr9:
14348068-14348068
GCintronicDe novo--Trost2022 G
NFIB     3-0630-000chr9:
14355547-14355547
AGintronicDe novo--Trost2022 G
NFIB     Lim2017:36153chr9:
14150143-14150143
CTsplicingDe novosplicing20.8-Lim2017 E
NFIB     3-0482-000chr9:
14343778-14343778
GAintronicDe novo--Trost2022 G
NFIB     MSSNG00336-003chr9:
14347297-14347297
GAintronicDe novo--Trost2022 G
NFIB     1-0287-003chr9:
14512302-14512302
CTintergenicDe novo--Trost2022 G
NFIB     2-1290-003chr9:
14194329-14194329
TTCTCintronicDe novo--Yuen2017 G
NFIB     2-1526-003chr9:
14392315-14392315
AGintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     AU2303301chr9:
14524879-14524879
TCintergenicDe novo--Trost2022 G
NFIB     MSSNG00032-004chr9:
14500224-14500224
CTintergenicDe novo--Trost2022 G
NFIB     1026chr9:
14504143-14504143
GTintergenicDe novo--Trost2022 G
NFIB     MSSNG00241-003chr9:
14478498-14478498
GCintergenicDe novo--Trost2022 G
NFIB     1-1109-003chr9:
14493581-14493581
TCintergenicDe novo--Trost2022 G
NFIB     7-0095-004chr9:
14534033-14534033
GAintergenicDe novo--Yuen2017 G
NFIB     1-0090-003chr9:
14456099-14456099
GAintergenicDe novo--Trost2022 G
NFIB     1-1204-004chr9:
14476704-14476704
ATintergenicDe novo--Trost2022 G
NFIB     MSSNG00439-003chr9:
14529074-14529074
ATintergenicDe novo--Trost2022 G
NFIB     5-0050-004chr9:
14116657-14116657
TGintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     AU2863303chr9:
14594019-14594019
ATintergenicDe novo--Yuen2017 G
NFIB     AU4344301chr9:
14163601-14163607
CAAAAAACAAAAAintronicDe novo--Yuen2017 G
NFIB     1-0539-003chr9:
14572730-14572730
GGGAintergenicDe novo--Yuen2017 G
NFIB     1-0720-003chr9:
14091364-14091364
TCintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     1-0494-003Achr9:
14162413-14162413
AGintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     2-0704-003chr9:
14244382-14244382
TAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
NFIB     14385.p1chr9:
14150143-14150143
CTsplicingDe novosplicing20.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lowther2023 G
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
NFIB     SP0120673chr9:
14398668-14398668
TCUTR5De novo--Fu2022 E
NFIB     AU2410301chr9:
14169345-14169345
GCintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     1-0032-003chr9:
14160968-14160968
GAintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     1-0494-003chr9:
14162413-14162413
AGintronicDe novo--Yuen2017 G
NFIB     1-0043-003chr9:
14205284-14205284
AAGGintronicDe novo--Yuen2017 G
NFIB     2-1522-003chr9:
14563809-14563809
GAintergenicDe novo--Yuen2017 G
NFIB     AU030804chr9:
14274195-14274195
TCintronicDe novo--Trost2022 G
Yuen2017 G
NFIB     AU4164301chr9:
14461820-14461820
CTintergenicDe novo--Yuen2017 G
NFIB     MSSNG00172-003chr9:
14142526-14142526
CTintronicDe novo--Trost2022 G
NFIB     REACH000159chr9:
14146518-14146520
CTTCintronicDe novo--Trost2022 G
NFIB     REACH000182chr9:
14136809-14136809
GTintronicDe novo--Trost2022 G
NFIB     MSSNG00340-003chr9:
14137623-14137623
CTintronicDe novo--Trost2022 G
NFIB     7-0161-003chr9:
14113899-14113899
CAintronicDe novo--Trost2022 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 notesView
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