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Results for "FLNB"

Variant Events: 35

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     2-1294-004chr3:
58151095-58151095
CAintronicDe novo--Trost2022 G
FLNB     SP0206404chr3:
58089736-58089736
GAexonicDe novononsynonymous SNVNM_001164317
NM_001164318
NM_001164319
NM_001457
c.G1534A
c.G1534A
c.G1534A
c.G1534A
p.A512T
p.A512T
p.A512T
p.A512T
10.655.0E-4Trost2022 G
FLNB     REACH000640chr3:
58140676-58140676
AGintronicDe novo--Trost2022 G
FLNB     7-0233-003chr3:
58084790-58084790
CTintronicDe novo--Trost2022 G
FLNB     7-0233-004chr3:
58084790-58084790
CTintronicDe novo--Trost2022 G
FLNB     REACH000249chr3:
58071068-58071068
TGintronicDe novo--Trost2022 G
FLNB     3-0061-000chr3:
58083455-58083455
GCintronicDe novo--Trost2022 G
FLNB     AU071203chr3:
58034551-58034551
TCintronicDe novo--Trost2022 G
Yuen2017 G
FLNB     1-0272-004chr3:
58007820-58007820
CTintronicDe novo--Trost2022 G
Yuen2017 G
FLNB     AU071203chr3:
58040503-58040503
CTintronicDe novo--Trost2022 G
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     2-1086-004chr3:
58101689-58101689
TAintronicDe novo--Trost2022 G
Yuen2017 G
FLNB     7-0024-005chr3:
58159503-58159510
ATGGGCTTAintergenicDe novo--Yuen2017 G
FLNB     1-0321-004chr3:
58118270-58118285
GTCTCCTTAATTATACGintronicDe novo--Trost2022 G
Yuen2017 G
FLNB     2-0013-003chr3:
58151912-58151915
AAGTAintronicDe novo--Trost2022 G
Yuen2017 G
FLNB     54666147613-Cchr3:
58139311-58139311
GTexonicDe novononsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.G6505T
c.G6544T
c.G6577T
c.G6670T
p.A2169S
p.A2182S
p.A2193S
p.A2224S
22.1-Fu2022 E
FLNB     1-0465-003chr3:
58054368-58054368
CGintronicDe novo--Yuen2017 G
FLNB     G01_GEA529HIchr3:
58084320-58084320
GAintronicDe novo--Fu2022 E
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--Trost2022 G
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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
FLNB     SP0031294chr3:
58155535-58155535
CAintronicDe novo--Fu2022 E
FLNB     SP0057831chr3:
58131720-58131720
AGexonicDe novononsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.A5426G
c.A5465G
c.A5498G
c.A5591G
p.Y1809C
p.Y1822C
p.Y1833C
p.Y1864C
22.5-Fu2022 E
Trost2022 G
Zhou2022 GE
FLNB     SMHC01081s000chr3:
58149052-58149052
CAexonicDe novononsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.C7121A
c.C7160A
c.C7193A
c.C7286A
p.T2374N
p.T2387N
p.T2398N
p.T2429N
15.92-Yuan2023 E
FLNB     7-0273-003chr3:
58017956-58017956
GAintronicDe novo--Trost2022 G
Yuen2017 G
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-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
FLNB     1-0603-003chr3:
58033308-58033308
ATintronicDe novo--Trost2022 G
FLNB     1-0465-003Achr3:
58054368-58054368
CGintronicDe novo--Trost2022 G
FLNB     1-0105-003chr3:
58010046-58010046
CTintronicDe novo--Trost2022 G
FLNB     AU030804chr3:
58011184-58011184
GTintronicDe novo--Trost2022 G
FLNB     SP0005989chr3:
58128382-58128382
CGexonicsynonymous SNVNM_001164319
NM_001164318
NM_001457
NM_001164317
c.C5115G
c.C5154G
c.C5187G
c.C5280G
p.T1705T
p.T1718T
p.T1729T
p.T1760T
--Zhou2022 GE
FLNB     1-0465-003achr3:
58054368-58054368
CGintronicDe novo--Yuen2017 G
FLNB     2-1629-003chr3:
58019409-58019409
CTintronicDe novo--Trost2022 G
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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