Variant Results

or

Results for "FN1"

Variant Events: 35

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

FN1

mAGRE2415

chr2:
216271137-216271137

T

C

exonic

De novo

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482

c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G

p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C

21.2

-

Cirnigliaro2023 G

FN1

PN400321

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

7-0188-003

chr2:
216266551-216266551

C

T

intronic

De novo

-

Yuen2017 G

FN1

SP0047769

chr2:
216269186-216269186

G

A

exonic

De novo

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482

c.C3179T
c.C3179T
c.C3179T
c.C3179T
c.C3179T
c.C3179T
c.C3179T
c.C3179T
c.C3179T

p.S1060F
p.S1060F
p.S1060F
p.S1060F
p.S1060F
p.S1060F
p.S1060F
p.S1060F
p.S1060F

18.04

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FN1

SP0104021

chr2:
216243915-216243915

C

T

exonic

De novo

nonsynonymous SNV

NM_001306131
NM_001306132
NM_212474
NM_212476
NM_001306130
NM_002026
NM_212478
NM_001306129
NM_212482

c.G5017A
c.G5017A
c.G5017A
c.G5017A
c.G5290A
c.G5287A
c.G5287A
c.G5560A
c.G5560A

p.G1673R
p.G1673R
p.G1673R
p.G1673R
p.G1764R
p.G1763R
p.G1763R
p.G1854R
p.G1854R

20.6

1.648E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

FN1

PN400267

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

PN400562

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

SP0042768

chr2:
216257669-216257669

G

A

exonic

De novo

synonymous SNV

NM_001306129
NM_001306130
NM_212482

c.C4054T
c.C4054T
c.C4054T

p.L1352L
p.L1352L
p.L1352L

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FN1

SP0096153

chr2:
216274346-216274346

C

T

exonic

De novo

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482

c.G2239A
c.G2239A
c.G2239A
c.G2239A
c.G2239A
c.G2239A
c.G2239A
c.G2239A
c.G2239A

p.V747M
p.V747M
p.V747M
p.V747M
p.V747M
p.V747M
p.V747M
p.V747M
p.V747M

14.17

8.238E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

FN1

13573.p1

chr2:
216251636-216251636

T

G

exonic

De novo

nonsynonymous SNV

NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_001306129
NM_001306130
NM_212482

c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4388C
c.A4388C
c.A4388C

p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1463T
p.N1463T
p.N1463T

12.02

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

FN1

133350

chr2:
216240027-216240027

C

T

exonic

nonsynonymous SNV

NM_001306131
NM_001306132
NM_212474
NM_212476
NM_001306130
NM_002026
NM_212478
NM_001306129
NM_212482

c.G5524A
c.G5524A
c.G5524A
c.G5524A
c.G5797A
c.G5794A
c.G5794A
c.G6067A
c.G6067A

p.G1842S
p.G1842S
p.G1842S
p.G1842S
p.G1933S
p.G1932S
p.G1932S
p.G2023S
p.G2023S

34.0

2.472E-5

Woodbury-Smith2022 E

FN1

SP0120019

chr2:
216256594-216256594

G

A

intronic

De novo

-

Fu2022 E

FN1

REACH000163

chr2:
216235292-216235292

G

A

intronic

De novo

-

Trost2022 G

FN1

JASD_Fam0010

chr2:
216239958-216239958

C

T

exonic

De novo

nonsynonymous SNV

NM_001306131
NM_001306132
NM_212474
NM_212476
NM_001306130
NM_002026
NM_212478
NM_001306129
NM_212482

c.G5593A
c.G5593A
c.G5593A
c.G5593A
c.G5866A
c.G5863A
c.G5863A
c.G6136A
c.G6136A

p.V1865I
p.V1865I
p.V1865I
p.V1865I
p.V1956I
p.V1955I
p.V1955I
p.V2046I
p.V2046I

16.35

-

Takata2018 E

FN1

MSSNG00084-003

chr2:
216237006-216237006

C

T

exonic

De novo

nonsynonymous SNV

NM_001306131
NM_001306132
NM_212476
NM_002026
NM_212478
NM_001306129
NM_212482

c.G5797A
c.G5722A
c.G5797A
c.G6067A
c.G5992A
c.G6340A
c.G6340A

p.V1933I
p.V1908I
p.V1933I
p.V2023I
p.V1998I
p.V2114I
p.V2114I

8.444

9.887E-5

Trost2022 G
Zhou2022 GE

FN1

PN400371

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

PN400215

chr2:
216226780-216226780

C

T

exonic

Unknown

nonsynonymous SNV

NM_212474
NM_212476
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212478
NM_212482
NM_001306129

c.G6371A
c.G6731A
c.G6644A
c.G6638A
c.G6563A
c.G6908A
c.G6833A
c.G7274A
c.G7181A

p.R2124H
p.R2244H
p.R2215H
p.R2213H
p.R2188H
p.R2303H
p.R2278H
p.R2425H
p.R2394H

26.2

3.0E-4

Leblond2019 E

FN1

PN400474

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

REACH000514

chr2:
216261131-216261131

A

T

intronic

De novo

-

Trost2022 G

FN1

SSC09940

chr2:
216288853-216288853

C

T

intronic

De novo

-

3.299E-5

Trost2022 G

FN1

SSC02989

chr2:
216245617-216245617

C

T

exonic

De novo

nonsynonymous SNV

NM_002026
NM_212478
NM_001306129
NM_212482

c.G5078A
c.G5078A
c.G5351A
c.G5351A

p.R1693K
p.R1693K
p.R1784K
p.R1784K

16.17

-

Fu2022 E
Lim2017 E
Trost2022 G

FN1

PN400560

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

09C98474

chr2:
216259404-216259404

C

T

exonic

De novo

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482

c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A
c.G3643A

p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S
p.G1215S

29.2

8.239E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FN1

SSC08165

chr2:
216251636-216251636

T

G

exonic

De novo

nonsynonymous SNV

NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_001306129
NM_001306130
NM_212482

c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4115C
c.A4388C
c.A4388C
c.A4388C

p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1372T
p.N1463T
p.N1463T
p.N1463T

12.02

-

Fu2022 E
Lim2017 E
Trost2022 G

FN1

PN400129

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

PN400285

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

PN400559

chr2:
216289015-216289015

C

T

exonic

Unknown

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_054034
NM_212474
NM_212476
NM_212478
NM_212482

c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A
c.G1070A

p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E
p.G357E

33.0

0.0023

Leblond2019 E

FN1

SP0100983

chr2:
216245727-216245728

CT

C

exonic

De novo

frameshift deletion

NM_002026
NM_212478
NM_001306129
NM_212482

c.4967delA
c.4967delA
c.5240delA
c.5240delA

p.Q1656fs
p.Q1656fs
p.Q1747fs
p.Q1747fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

FN1

2-1562-004

chr2:
216265994-216265994

G

GA

intronic

De novo

-

Yuen2017 G

FN1

ASC_11523-1

chr2:
216289054-216289054

A

G

intronic

De novo

-

Fu2022 E

FN1

iHART2415

chr2:
216271137-216271137

T

C

exonic

De novo

nonsynonymous SNV

NM_001306129
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212474
NM_212476
NM_212478
NM_212482

c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G
c.A2810G

p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C
p.Y937C

21.2

-

Ruzzo2019 G

FN1

PN400504

chr2:
216226780-216226780

C

T

exonic

Unknown

nonsynonymous SNV

NM_212474
NM_212476
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212478
NM_212482
NM_001306129

c.G6371A
c.G6731A
c.G6644A
c.G6638A
c.G6563A
c.G6908A
c.G6833A
c.G7274A
c.G7181A

p.R2124H
p.R2244H
p.R2215H
p.R2213H
p.R2188H
p.R2303H
p.R2278H
p.R2425H
p.R2394H

26.2

3.0E-4

Leblond2019 E

FN1

11855.p1

chr2:
216245617-216245617

C

T

exonic

De novo

nonsynonymous SNV

NM_002026
NM_212478
NM_001306129
NM_212482

c.G5078A
c.G5078A
c.G5351A
c.G5351A

p.R1693K
p.R1693K
p.R1784K
p.R1784K

16.17

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

FN1

13938.p1

chr2:
216288853-216288853

C

T

intronic

De novo

-

3.299E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

FN1

PN400219

chr2:
216226780-216226780

C

T

exonic

Unknown

nonsynonymous SNV

NM_212474
NM_212476
NM_001306130
NM_001306131
NM_001306132
NM_002026
NM_212478
NM_212482
NM_001306129

c.G6371A
c.G6731A
c.G6644A
c.G6638A
c.G6563A
c.G6908A
c.G6833A
c.G7274A
c.G7181A

p.R2124H
p.R2244H
p.R2215H
p.R2213H
p.R2188H
p.R2303H
p.R2278H
p.R2425H
p.R2394H

26.2

3.0E-4

Leblond2019 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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