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Results for "FLNB"

Variant Events: 18

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
FLNB     2-0013-003chr3:
58151912-58151915
AAGTAintronicDe novo--Yuen2017 G
FLNB     1-0465-003chr3:
58054368-58054368
CGintronicDe novo--Yuen2017 G
FLNB     SJD_34chr3:
58134022-58134022
GTexonicPaternalnonsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.G5746T
c.G5785T
c.G5818T
c.G5911T
p.A1916S
p.A1929S
p.A1940S
p.A1971S
36.01.671E-5Toma2013 E
FLNB     2-1231-003chr3:
58000173-58000173
GAintronicDe novo--Yuen2017 G
FLNB     AU109Achr3:
58139188-58139188
TCexonicDe novononsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.T6382C
c.T6421C
c.T6454C
c.T6547C
p.S2128P
p.S2141P
p.S2152P
p.S2183P
20.7-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FLNB     UK10K_SKUSE5080183chr3:
58145363-58145363
ACexonicDe novononsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.A6899C
c.A6938C
c.A6971C
c.A7064C
p.H2300P
p.H2313P
p.H2324P
p.H2355P
16.840.0031DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
FLNB     AU071203chr3:
58034551-58034551
TCintronicDe novo--Yuen2017 G
FLNB     1-0272-004chr3:
58007820-58007820
CTintronicDe novo--Yuen2017 G
FLNB     AU071203chr3:
58040503-58040503
CTintronicDe novo--Yuen2017 G
FLNB     7-0273-003chr3:
58017956-58017956
GAintronicDe novo--Yuen2017 G
FLNB     12439.p1chr3:
58134422-58134422
CGexonicMosaic Pat.nonsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.C5862G
c.C5901G
c.C5934G
c.C6027G
p.I1954M
p.I1967M
p.I1978M
p.I2009M
18.37-Dou2017 E
FLNB     AU2793303chr3:
58043806-58043806
GAintronicDe novo--Yuen2017 G
FLNB     5F620chr3:
58109209-58109209
GAexonicDe novosynonymous SNVNM_001164317
NM_001164318
NM_001164319
NM_001457
c.G3516A
c.G3516A
c.G3516A
c.G3516A
p.S1172S
p.S1172S
p.S1172S
p.S1172S
-3.37E-5Satterstrom2020 E
FLNB     2-1086-004chr3:
58101689-58101689
TAintronicDe novo--Yuen2017 G
FLNB     7-0024-005chr3:
58159503-58159510
ATGGGCTTAintergenicDe novo--Yuen2017 G
FLNB     1-0321-004chr3:
58118270-58118285
GTCTCCTTAATTATACGintronicDe novo--Yuen2017 G
FLNB     1-0465-003achr3:
58054368-58054368
CGintronicDe novo--Yuen2017 G
FLNB     2-1629-003chr3:
58019409-58019409
CTintronicDe 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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