Variant Results

or

Results for "FBN1"

Variant Events: 34

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

FBN1

70524

chr15:
48780431-48780431

G

A

exonic

De novo

synonymous SNV

NM_000138

c.C3216T

p.D1072D

-

4.12E-5

Fu2022 E

FBN1

AU1988301

chr15:
48844024-48844024

T

C

intronic

De novo

-

Yuen2017 G

FBN1

12687_p1

chr15:
48766841-48766841

T

C

exonic

De novo

nonsynonymous SNV

NM_000138

c.A3971G

p.N1324S

15.35

8.246E-6

Fu2022 E

FBN1

PN400366

chr15:
48807662-48807662

G

A

exonic

Unknown

nonsynonymous SNV

NM_000138

c.C1390T

p.R464C

20.0

-

Leblond2019 E

FBN1

12858.p1

chr15:
48766755-48766755

C

T

exonic

De novo

nonsynonymous SNV

NM_000138

c.G4057A

p.G1353R

23.2

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

FBN1

440-04-101592

chr15:
48764771-48764771

C

T

exonic

De novo

nonsynonymous SNV

NM_000138

c.G4313A

p.S1438N

27.2

5.766E-5

Fu2022 E
Satterstrom2020 E

FBN1

2-1398-003

chr15:
48949249-48949249

G

A

intergenic

De novo

-

Yuen2017 G

FBN1

AU024104

chr15:
48822057-48822060

CCCG

C

intronic

De novo

-

Yuen2017 G

FBN1

1-0075-003

chr15:
48724134-48724134

A

G

intronic

De novo

-

Yuen2017 G

FBN1

AU4250301

chr15:
48758553-48758553

T

C

intronic

De novo

-

Yuen2017 G

FBN1

NDAR_INVLT348DHD_wes1

chr15:
48720623-48720623

C

T

exonic

De novo

nonsynonymous SNV

NM_000138

c.G6917A

p.R2306H

20.3

1.65E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

FBN1

2-1605-004

chr15:
48781675-48781675

A

G

intronic

De novo

-

Yuen2017 G

FBN1

PN400514

chr15:
48784699-48784699

G

A

exonic

Unknown

nonsynonymous SNV

NM_000138

c.C2813T

p.P938L

35.0

-

Leblond2019 E

FBN1

2-0127-004

chr15:
48779518-48779518

C

T

exonic

De novo

nonsynonymous SNV

NM_000138

c.G3454A

p.A1152T

16.49

1.647E-5

Yuen2017 G

FBN1

SMHC01707s000

chr15:
48748860-48748860

T

C

exonic

De novo

nonsynonymous SNV

NM_000138

c.A5396G

p.Y1799C

23.8

-

Yuan2023 E

FBN1

2-1486-003

chr15:
48716109-48716109

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FBN1

PN400111

chr15:
48784699-48784699

G

A

exonic

Unknown

nonsynonymous SNV

NM_000138

c.C2813T

p.P938L

35.0

-

Leblond2019 E

FBN1

12687.p1

chr15:
48766841-48766841

T

C

exonic

De novo

nonsynonymous SNV

NM_000138

c.A3971G

p.N1324S

15.35

8.246E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G

FBN1

14581.p1

chr15:
48780431-48780431

G

A

exonic

De novo

synonymous SNV

NM_000138

c.C3216T

p.D1072D

-

4.12E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

FBN1

2-0142-004

chr15:
48751681-48751681

T

A

intronic

De novo

-

Yuen2017 G

FBN1

133350

chr15:
48712995-48712995

C

T

exonic

nonsynonymous SNV

NM_000138

c.G7708A

p.E2570K

36.0

-

Woodbury-Smith2022 E

FBN1

Lim2017:70524

chr15:
48780431-48780431

G

A

exonic

De novo

synonymous SNV

NM_000138

c.C3216T

p.D1072D

-

4.12E-5

Lim2017 E

FBN1

SSC06219

chr15:
48766755-48766755

C

T

exonic

De novo

nonsynonymous SNV

NM_000138

c.G4057A

p.G1353R

23.2

-

Fu2022 E
Lim2017 E

FBN1

1876-23644

chr15:
48788393-48788393

G

A

exonic

nonsynonymous SNV

NM_000138

c.C2323T

p.L775F

33.0

-

Callaghan2019 G

FBN1

12485.p1

chr15:
48730127-48730127

T

A

intronic

Mosaic

-

Dou2017 E

FBN1

SSC00901

chr15:
48752465-48752465

G

A

exonic

De novo

synonymous SNV

NM_000138

c.C5274T

p.D1758D

-

Fu2022 E
Lim2017 E

FBN1

2-1383-003

chr15:
48859878-48859878

C

T

intronic

De novo

-

Yuen2017 G

FBN1

11018.p1

chr15:
48752465-48752465

G

A

exonic

De novo

synonymous SNV

NM_000138

c.C5274T

p.D1758D

-

Satterstrom2020 E

FBN1

111300

chr15:
48807652-48807652

G

A

exonic

nonsynonymous SNV

NM_000138

c.C1400T

p.P467L

34.0

-

Woodbury-Smith2022 E

FBN1

AU3638302

chr15:
48786261-48786261

C

T

intronic

De novo

-

Yuen2017 G

FBN1

2-1719-003

chr15:
48918402-48918402

C

T

intronic

De novo

-

Yuen2017 G

FBN1

13438.p1

chr15:
48717681-48717681

G

A

exonic

Mosaic

synonymous SNV

NM_000138

c.C7338T

p.N2446N

-

1.0E-4

Dou2017 E
Krupp2017 E

FBN1

G01-GEA-105-HI

chr15:
48829922-48829923

GC

G

exonic

De novo

frameshift deletion

NM_000138

c.621delG

p.T207fs

-

Fu2022 E
Satterstrom2020 E

FBN1

01C07487

chr15:
48744761-48744761

T

C

exonic

De novo

nonsynonymous SNV

NM_000138

c.A5543G

p.N1848S

10.61

-

Fu2022 E
Satterstrom2020 E

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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