Variant Results

or

Results for "FBLN1"

Variant Events: 32

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

FBLN1

062-03-100282

chr22:
45913433-45913433

G

A

intronic

De novo

-

6.728E-5

Satterstrom2020 E
Trost2022 G

FBLN1

SP0076795

chr22:
45898827-45898827

C

CGGCCACCGCCGCCCACCGCCCG

UTR5

De novo

-

Fu2022 E

FBLN1

SP0106253

chr22:
45970524-45970524

C

T

exonic

De novo

nonsynonymous SNV

NM_006486

c.C1831T

p.R611C

19.88

8.674E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

FBLN1

SP0001753

chr22:
45946345-45946345

A

C

intronic

De novo

-

Fu2022 E
Trost2022 G

FBLN1

1-0482-003

chr22:
45986518-45986518

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FBLN1

SP0027931

chr22:
45914526-45914526

T

G

intronic

De novo

-

Fu2022 E

FBLN1

2-1283-004

chr22:
45988656-45988656

C

T

intronic

De novo

-

Yuen2017 G

FBLN1

2-0149-004

chr22:
45948178-45948178

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FBLN1

1-0286-004

chr22:
45950052-45950053

GG

AC

intronic

De novo

-

Trost2022 G

FBLN1

12447.p1

chr22:
45927118-45927118

G

A

intronic

Mosaic Pat.

-

1.0E-4

Dou2017 E

FBLN1

2-0142-003

chr22:
45950046-45950047

GT

TG

intronic

De novo

-

Trost2022 G

FBLN1

1-0286-004

chr22:
45950046-45950047

GT

ATG

intronic

De novo

-

Trost2022 G

FBLN1

MSSNG00014-004

chr22:
45940179-45940179

C

A

intronic

De novo

-

Trost2022 G

FBLN1

MSSNG00401-003

chr22:
45913093-45913093

G

A

intronic

De novo

-

Trost2022 G

FBLN1

AU2461301

chr22:
45897955-45897955

T

C

upstream

De novo

-

Trost2022 G

FBLN1

2-0149-003

chr22:
45992016-45992018

CGG

TAA

intronic

De novo

-

Trost2022 G

FBLN1

MSSNG00003-004

chr22:
45991027-45991027

C

T

intronic

De novo

-

Trost2022 G

FBLN1

REACH000359

chr22:
45987879-45987879

A

G

intronic

De novo

-

Trost2022 G

FBLN1

3-0777-000

chr22:
45970754-45970754

C

T

intronic

De novo

-

Trost2022 G

FBLN1

MSSNG00375-003

chr22:
45970357-45970357

C

T

intronic

De novo

-

Trost2022 G

FBLN1

3-0345-000

chr22:
45964458-45964458

A

C

intronic

De novo

-

Trost2022 G

FBLN1

SP0119413

chr22:
45960963-45960963

C

T

UTR3

De novo

-

Trost2022 G

FBLN1

2-0142-003

chr22:
45950052-45950053

GG

AC

intronic

De novo

-

Trost2022 G

FBLN1

7-0171-003

chr22:
45936468-45936468

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FBLN1

2-0149-003

chr22:
45992029-45992029

G

A

intronic

De novo

-

Trost2022 G

FBLN1

1-0169-004

chr22:
45992022-45992024

CAC

TAT

intronic

De novo

-

Trost2022 G

FBLN1

2-0149-003

chr22:
45992022-45992024

CAC

TAT

intronic

De novo

-

Trost2022 G

FBLN1

1-0169-004

chr22:
45992016-45992018

CGG

TAA

intronic

De novo

-

Trost2022 G

FBLN1

2-1283-003

chr22:
45988656-45988656

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FBLN1

5-0128-003

chr22:
45991325-45991325

G

A

intronic

De novo

-

Yuen2017 G

FBLN1

PN400582

chr22:
45946442-45946442

C

A

exonic

De novo

synonymous SNV

NM_001996
NM_006485
NM_006486
NM_006487

c.C1644A
c.C1644A
c.C1644A
c.C1644A

p.G548G
p.G548G
p.G548G
p.G548G

-

Leblond2019 E

FBLN1

AU3724301

chr22:
45991228-45991228

C

T

intronic

De novo

-

Trost2022 G
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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