Variant Results

or

Results for "FBN2"

Variant Events: 59

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

FBN2

1-0383-003

chr5:
128130378-128130378

G

C

intergenic

De novo

-

Yuen2017 G

FBN2

A11051-2

chr5:
127863565-127863565

G

A

exonic

Unknown

nonsynonymous SNV

NM_001999

c.C532T

p.P178S

20.2

2.563E-5

Li2017 T

FBN2

AU024105

chr5:
127980785-127980785

A

C

intergenic

De novo

-

Yuen2017 G

FBN2

AU4093302

chr5:
127719463-127719463

C

T

intronic

De novo

-

Yuen2017 G

FBN2

AU3634301

chr5:
128275236-128275236

C

T

intergenic

De novo

-

Yuen2017 G

FBN2

AU1894303

chr5:
127805032-127805032

G

A

intronic

De novo

-

Yuen2017 G

FBN2

PN400150

chr5:
127664436-127664436

C

T

exonic

Unknown

nonsynonymous SNV

NM_001999

c.G4423A

p.E1475K

36.0

3.31E-5

Leblond2019 E

FBN2

Li2017:21837

chr5:
127673784-127673784

A

G

exonic

Unknown

nonsynonymous SNV

NM_001999

c.T3503C

p.L1168P

24.6

8.264E-6

Li2017 T

FBN2

AU3809302

chr5:
127986943-127986943

C

T

intergenic

De novo

-

Yuen2017 G

FBN2

G01_GEA522HI

chr5:
127728871-127728871

G

A

exonic

De novo

synonymous SNV

NM_001999

c.C1422T

p.A474A

-

4.121E-5

Fu2022 E

FBN2

2-1366-003

chr5:
128126987-128126988

CT

C

intergenic

De novo

-

Yuen2017 G

FBN2

Li2017:23092

chr5:
127714532-127714532

G

A

exonic

Unknown

nonsynonymous SNV

NM_001999

c.C1655T

p.T552I

21.3

-

Li2017 T

FBN2

1-0263-003

chr5:
127926071-127926071

T

A

intergenic

De novo

-

Yuen2016 G

FBN2

Li2017:19675

chr5:
127727761-127727761

C

A

exonic

Unknown

nonsynonymous SNV

NM_001999

c.G1553T

p.R518L

24.3

8.245E-6

Li2017 T

FBN2

A12

chr5:
127597456-127597457

CT

C

exonic

De novo

frameshift deletion

NM_001999

c.8335delA

p.R2779fs

-

Wu2018 G

FBN2

1-0494-003A

chr5:
127962183-127962183

T

C

intergenic

De novo

-

Yuen2017 G

FBN2

2-1189-003

chr5:
127677978-127677978

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

FBN2

1-0271-003

chr5:
127950384-127950384

T

C

intergenic

De novo

-

Yuen2017 G

FBN2

Li2017:23157

chr5:
127674748-127674748

C

T

exonic

Unknown

nonsynonymous SNV

NM_001999

c.G3349A

p.D1117N

21.8

3.313E-5

Li2017 T

FBN2

2-1338-003

chr5:
127931712-127931712

G

C

intergenic

De novo

-

Yuen2017 G

FBN2

2-1378-003

chr5:
128163126-128163126

A

G

intergenic

De novo

-

Yuen2017 G

FBN2

AU1223301

chr5:
127920693-127920693

C

T

intergenic

De novo

-

Yuen2017 G

FBN2

Li2017:4

chr5:
127599294-127599294

G

T

exonic

Unknown

nonsynonymous SNV

NM_001999

c.C8015A

p.T2672N

23.6

-

Li2017 T

FBN2

5-0131-003

chr5:
128163512-128163512

T

C

intergenic

De novo

-

Yuen2017 G

FBN2

2-1415-004

chr5:
128149492-128149492

T

G

intergenic

De novo

-

Yuen2017 G

FBN2

AU4260303

chr5:
127634519-127634519

T

C

intronic

De novo

-

Yuen2017 G

FBN2

SP0004471

chr5:
127674796-127674796

T

C

intronic

De novo

-

Fu2022 E

FBN2

Hu2022:74

chr5:
127625581-127625582

TG

T

exonic

Unknown

frameshift deletion

NM_001999

c.6503delC

p.T2168fs

-

Hu2022 T

FBN2

1-0514-003

chr5:
128137262-128137262

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FBN2

2-1336-004

chr5:
128282461-128282461

G

C

intergenic

De novo

-

Yuen2017 G

FBN2

SP0069885

chr5:
127800616-127800616

T

TG

splicing

De novo

splicing

-

Fu2022 E

FBN2

SP0032243

chr5:
127744523-127744523

A

G

intronic

De novo

-

Fu2022 E

FBN2

Li2017:17674

chr5:
127599294-127599294

G

T

exonic

Unknown

nonsynonymous SNV

NM_001999

c.C8015A

p.T2672N

23.6

-

Li2017 T

FBN2

AU4269301

chr5:
128213289-128213289

A

G

intergenic

De novo

-

Yuen2017 G

FBN2

Li2017:20256

chr5:
127636521-127636521

C

T

exonic

Unknown

nonsynonymous SNV

NM_001999

c.G6154A

p.E2052K

33.0

8.237E-6

Li2017 T

FBN2

iHART2908

chr5:
127713489-127713490

CA

C

exonic

Paternal

frameshift deletion

NM_001999

c.1804delT

p.C602fs

-

Ruzzo2019 G

FBN2

14416.p1

chr5:
128144158-128144158

T

C

intergenic

De novo

-

Wilfert2021 G

FBN2

iHART2691

chr5:
127626573-127626577

GTATC

G

exonic

Maternal

nonframeshift deletion

NM_001999

c.6293_6295del

p.2098_2099del

-

Ruzzo2019 G

FBN2

2-0109-003

chr5:
128237404-128237404

A

G

intergenic

De novo

-

Yuen2017 G

FBN2

AU1894304

chr5:
128153280-128153280

G

A

intergenic

De novo

-

Yuen2017 G

FBN2

1-0158-012

chr5:
127728960-127728960

T

C

exonic

De novo

nonsynonymous SNV

NM_001999

c.A1333G

p.S445G

5.874

3.299E-5

Yuen2017 G

FBN2

2-0318-003

chr5:
128287823-128287823

A

G

intergenic

De novo

-

Yuen2017 G

FBN2

AU2089301

chr5:
127738264-127738264

T

C

intronic

De novo

-

Yuen2017 G

FBN2

AU3779304

chr5:
127778579-127778579

G

A

intronic

De novo

-

Yuen2017 G

FBN2

Li2017:18354

chr5:
127625580-127625580

G

A

exonic

Unknown

nonsynonymous SNV

NM_001999

c.C6505T

p.R2169C

20.7

-

Li2017 T

FBN2

Li2017:18354

chr5:
127681171-127681171

G

C

exonic

Unknown

nonsynonymous SNV

NM_001999

c.C3095G

p.A1032G

25.0

-

Li2017 T

FBN2

1-0126-004

chr5:
128038119-128038119

T

G

intergenic

De novo

-

Yuen2017 G

FBN2

Li2017:27806

chr5:
127714583-127714583

T

C

exonic

Unknown

nonsynonymous SNV

NM_001999

c.A1604G

p.D535G

21.7

-

Li2017 T

FBN2

AU3782303

chr5:
127985314-127985314

C

G

intergenic

De novo

-

Yuen2017 G

FBN2

SP0002235

chr5:
127713510-127713511

TC

T

exonic

De novo

frameshift deletion

NM_001999

c.1783delG

p.D595fs

-

Feliciano2019 E
Fu2022 E

FBN2

1-0107-003

chr5:
128172458-128172458

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FBN2

AU3368302

chr5:
127916749-127916749

T

C

intergenic

De novo

-

Yuen2017 G

FBN2

Li2017:20559

chr5:
127700391-127700391

T

A

exonic

Unknown

nonsynonymous SNV

NM_001999

c.A2330T

p.D777V

15.61

-

Li2017 T

FBN2

Li2017:18470

chr5:
127702120-127702120

T

G

exonic

De novo

nonsynonymous SNV

NM_001999

c.A2252C

p.E751A

15.4

7.317E-5

Li2017 T

FBN2

AU1988302

chr5:
128146013-128146013

C

G

intergenic

De novo

-

Yuen2017 G

FBN2

1-0567-004

chr5:
127745971-127745971

G

T

intronic

De novo

-

Yuen2017 G

FBN2

AU4056301

chr5:
128035953-128035953

A

C

intergenic

De novo

-

Yuen2017 G

FBN2

2-1511-003

chr5:
128090718-128090733

AAGAGAGAGAGAGAGA

AAGAGAGAGAGAGA

intergenic

De novo

-

Yuen2017 G

FBN2

A09006-2

chr5:
127597456-127597457

CT

C

exonic

Unknown

frameshift deletion

NM_001999

c.8335delA

p.R2779fs

-

Li2017 T

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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