Variant Results

or

or

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

2-0013-003

chr3:
58151912-58151915

AAGT

A

intronic

De novo

-

-

Yuen2017 G

FLNB

1-0465-003

chr3:
58054368-58054368

C

G

intronic

De novo

-

-

Yuen2017 G

FLNB

SJD_34

chr3:
58134022-58134022

G

T

exonic

Paternal

nonsynonymous SNV

NM_001164319
NM_001164318
NM_001457
NM_001164317

c.G5746T
c.G5785T
c.G5818T
c.G5911T

p.A1916S
p.A1929S
p.A1940S
p.A1971S

36.0

Toma2013 E

FLNB

2-1231-003

chr3:
58000173-58000173

G

A

intronic

De novo

-

-

Yuen2017 G

FLNB

AU109A

chr3:
58139188-58139188

T

C

exonic

De novo

nonsynonymous SNV

NM_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_SKUSE5080183

chr3:
58145363-58145363

A

C

exonic

De novo

nonsynonymous SNV

NM_001164319
NM_001164318
NM_001457
NM_001164317

c.A6899C
c.A6938C
c.A6971C
c.A7064C

p.H2300P
p.H2313P
p.H2324P
p.H2355P

16.84

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

FLNB

AU071203

chr3:
58034551-58034551

T

C

intronic

De novo

-

-

Yuen2017 G

FLNB

1-0272-004

chr3:
58007820-58007820

C

T

intronic

De novo

-

-

Yuen2017 G

FLNB

AU071203

chr3:
58040503-58040503

C

T

intronic

De novo

-

-

Yuen2017 G

FLNB

7-0273-003

chr3:
58017956-58017956

G

A

intronic

De novo

-

-

Yuen2017 G

FLNB

12439.p1

chr3:
58134422-58134422

C

G

exonic

Mosaic Pat.

nonsynonymous SNV

NM_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

AU2793303

chr3:
58043806-58043806

G

A

intronic

De novo

-

-

Yuen2017 G

FLNB

5F620

chr3:
58109209-58109209

G

A

exonic

De novo

synonymous SNV

NM_001164317
NM_001164318
NM_001164319
NM_001457

c.G3516A
c.G3516A
c.G3516A
c.G3516A

p.S1172S
p.S1172S
p.S1172S
p.S1172S

-

Satterstrom2020 E

FLNB

2-1086-004

chr3:
58101689-58101689

T

A

intronic

De novo

-

-

Yuen2017 G

FLNB

7-0024-005

chr3:
58159503-58159510

ATGGGCTT

A

intergenic

De novo

-

-

Yuen2017 G

FLNB

1-0321-004

chr3:
58118270-58118285

GTCTCCTTAATTATAC

G

intronic

De novo

-

-

Yuen2017 G

FLNB

1-0465-003a

chr3:
58054368-58054368

C

G

intronic

De novo

-

-

Yuen2017 G

FLNB

2-1629-003

chr3:
58019409-58019409

C

T

intronic

De 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 notes	View
	More