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Results for "NFIB"

Variant Events: 28

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     AU4176302chr9:
14270237-14270237
TCintronicDe novo--Yuen2017 G
NFIB     1-0494-003Achr9:
14162413-14162413
AGintronicDe novo--Yuen2017 G
NFIB     2-1290-004chr9:
14194329-14194329
TTCTCintronicDe novo--Yuen2017 G
NFIB     2-0272-003chr9:
14302136-14302136
TAintronicDe novo--Yuen2017 G
NFIB     2-0704-003chr9:
14244382-14244382
TAintronicDe novo--Yuen2016 G
Yuen2017 G
NFIB     14385.p1chr9:
14150143-14150143
CTsplicingDe novosplicing20.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NFIB     AU2410301chr9:
14169345-14169345
GCintronicDe novo--Yuen2017 G
NFIB     AU4033303chr9:
14509002-14509002
CTintergenicDe novo--Yuen2017 G
NFIB     1-0139-003chr9:
14415825-14415825
GAintergenicDe novo--Yuen2017 G
NFIB     AU4159301chr9:
14149323-14149323
CTintronicDe novo--Yuen2017 G
NFIB     AU4306302chr9:
14308459-14308459
CAintronicDe novo--Yuen2017 G
NFIB     1-0032-003chr9:
14160968-14160968
GAintronicDe novo--Yuen2017 G
NFIB     1-0494-003chr9:
14162413-14162413
AGintronicDe novo--Yuen2017 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     2-0238-003chr9:
14454362-14454362
GTintergenicDe novo--Yuen2017 G
NFIB     Lim2017:36153chr9:
14150143-14150143
CTsplicingDe novosplicing20.8-Lim2017 E
NFIB     1-0043-003chr9:
14205284-14205284
AAGGintronicDe novo--Yuen2017 G
NFIB     2-1290-003chr9:
14194329-14194329
TTCTCintronicDe novo--Yuen2017 G
NFIB     2-1526-003chr9:
14392315-14392315
AGintronicDe novo--Yuen2017 G
NFIB     7-0095-004chr9:
14534033-14534033
GAintergenicDe novo--Yuen2017 G
NFIB     2-1522-003chr9:
14563809-14563809
GAintergenicDe novo--Yuen2017 G
NFIB     AU030804chr9:
14274195-14274195
TCintronicDe novo--Yuen2017 G
NFIB     AU4164301chr9:
14461820-14461820
CTintergenicDe novo--Yuen2017 G
NFIB     5-0050-004chr9:
14116657-14116657
TGintronicDe novo--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--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 notesView
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