or
or
Exact

Results for "NFIX"

Variant Events: 8

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
NFIX     1-0338-005chr19:
13193484-13193484
TTGACCintronicDe novo--Yuen2017 G
NFIX     2-1689-003chr19:
13200656-13200656
CGintronicDe novo--Yuen2017 G
NFIX     11434.p1chr19:
13186418-13186418
CTexonicMosaicsynonymous SNVNM_001271043
NM_001271044
NM_002501
c.C912T
c.C864T
c.C888T
p.P304P
p.P288P
p.P296P
-8.628E-6Dou2017 E
NFIX     005-05-102523chr19:
13136277-13136277
CGexonicDe novononsynonymous SNVNM_001271043
NM_001271044
NM_002501
c.C494G
c.C446G
c.C470G
p.S165W
p.S149W
p.S157W
20.3-Satterstrom2020 E
NFIX     1-0567-003chr19:
13136478-13136478
GAintronicDe novo--Yuen2017 G
NFIX     1-0445-003chr19:
13187573-13187573
CTintronicDe novo--Yuen2017 G
NFIX     1-0353-003chr19:
13199339-13199339
TCintronicDe novo--Yuen2017 G
NFIX     AU4070301chr19:
13149832-13149832
GAintronicDe novo--Yuen2017 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 notesView
More