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Results for "FLNC"

Variant Events: 11

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
FLNC     NDAR_INVRU232AAR_wes1chr7:
128486258-128486258
AGintronicDe novo-3.0E-4Kosmicki2017 E
Satterstrom2020 E
FLNC     PN400256chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
FLNC     PN400498chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
FLNC     JASD_Fam0101chr7:
128478444-128478444
GTexonicDe novononsynonymous SNVNM_001127487
NM_001458
c.G1171T
c.G1171T
p.V391L
p.V391L
21.1-Takata2018 E
FLNC     12697.p1chr7:
128490012-128490012
CTintronicDe novo-4.0E-4Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
FLNC     PN400116chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
FLNC     PN400530chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
FLNC     PN400417chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
FLNC     PN400127chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
FLNC     PN400257chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
FLNC     PN400308chr7:
128491324-128491324
CTexonicUnknownnonsynonymous SNVNM_001127487
NM_001458
c.C5479T
c.C5578T
p.R1827C
p.R1860C
20.30.0054Leblond2019 E
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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