Variant Results

or

Results for "FBN3"

Variant Events: 27

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

FBN3

EGAN00001101093

chr19:
8210846-8210846

A

G

intronic

De novo

-

Satterstrom2020 E

FBN3

CC1081.202

chr19:
8210844-8210844

G

A

intronic

De novo

-

Satterstrom2020 E

FBN3

Cukier2014:7590

chr19:
8175770-8175770

T

A

exonic

Unknown

nonsynonymous SNV

NM_032447

c.A4292T

p.N1431I

7.459

0.0035

Cukier2014 E

FBN3

Cukier2014:37674

chr19:
8183871-8183871

G

A

exonic

Unknown

nonsynonymous SNV

NM_032447

c.C3247T

p.R1083W

16.29

0.0635

Cukier2014 E

FBN3

SP0026222

chr19:
8188378-8188378

C

T

exonic

De novo

nonsynonymous SNV

NM_032447

c.G3052A

p.A1018T

11.95

6.772E-5

Fu2022 E

FBN3

SP0131432

chr19:
8194035-8194035

C

T

exonic

De novo

nonsynonymous SNV

NM_032447

c.G2173A

p.V725M

13.95

8.341E-6

Fu2022 E

FBN3

SP0050310

chr19:
8188469-8188469

C

G

exonic

De novo

synonymous SNV

NM_032447

c.G2961C

p.V987V

-

Fu2022 E

FBN3

SP0070186

chr19:
8140220-8140220

C

T

exonic

De novo

nonsynonymous SNV

NM_032447

c.G7529A

p.R2510H

9.857

4.0E-4

Fu2022 E

FBN3

ASC_CA_68_A

chr19:
8146051-8146051

A

T

intronic

De novo

-

Satterstrom2020 E

FBN3

111120

chr19:
8191204-8191204

C

A

exonic

De novo

nonsynonymous SNV

NM_032447

c.G2582T

p.R861L

7.975

-

Fu2022 E

FBN3

SP0104241

chr19:
8188889-8188889

A

C

exonic

De novo

nonsynonymous SNV

NM_032447

c.T2735G

p.V912G

12.1

-

Fu2022 E

FBN3

SP0069376

chr19:
8206917-8206917

G

C

exonic

De novo

nonsynonymous SNV

NM_032447

c.C646G

p.R216G

17.52

-

Fu2022 E

FBN3

AU4233301

chr19:
8142519-8142519

T

C

intronic

De novo

-

Yuen2017 G

FBN3

1-0567-003

chr19:
8262249-8262249

T

C

intergenic

De novo

-

Yuen2017 G

FBN3

SP0016289

chr19:
8186337-8186337

G

C

intronic

De novo

-

Fu2022 E

FBN3

SP0033777

chr19:
8181524-8181524

C

A

intronic

De novo

-

Fu2022 E

FBN3

4365_18au

chr19:
8201112-8201112

G

A

exonic

De novo

nonsynonymous SNV

NM_032447

c.C1427T

p.P476L

5.514

2.528E-5

Fu2022 E

FBN3

iHART3248

chr19:
8161801-8161801

G

A

exonic

Maternal

stopgain

NM_032447

c.C5377T

p.R1793X

44.0

2.474E-5

Ruzzo2019 G

FBN3

SSC09758

chr19:
8176027-8176027

G

A

exonic

De novo

synonymous SNV

NM_032447

c.C4125T

p.N1375N

-

1.693E-5

Fu2022 E
Lim2017 E

FBN3

DEASD_0402_001

chr19:
8176973-8176973

T

C

exonic

De novo

synonymous SNV

NM_032447

c.A3849G

p.E1283E

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

FBN3

SSC02555

chr19:
8167608-8167608

G

A

exonic

De novo

nonsynonymous SNV

NM_032447

c.C5089T

p.P1697S

0.388

8.25E-6

Fu2022 E
Lim2017 E

FBN3

AU4235301

chr19:
8138109-8138109

C

T

exonic

De novo

nonsynonymous SNV

NM_032447

c.G7775A

p.R2592H

19.48

1.0E-4

Yuen2017 G

FBN3

11122.p1

chr19:
8167608-8167608

G

A

exonic

De novo

nonsynonymous SNV

NM_032447

c.C5089T

p.P1697S

0.388

8.25E-6

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

FBN3

5-0015-003

chr19:
8262854-8262854

G

A

intergenic

De novo

-

Yuen2017 G

FBN3

13993.p1

chr19:
8176027-8176027

G

A

exonic

De novo

synonymous SNV

NM_032447

c.C4125T

p.N1375N

-

1.693E-5

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

FBN3

1-0485-003

chr19:
8188953-8188953

G

T

intronic

De novo

-

Yuen2017 G

FBN3

AU3951302

chr19:
8220539-8220539

A

G

intergenic

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
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