Variant Results

or

Results for "FAT3"

Variant Events: 104

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

FAT3

70233

chr11:
92533228-92533228

G

A

exonic

De novo

nonsynonymous SNV

NM_001008781

c.G7049A

p.R2350Q

16.66

-

Fu2022 E
Trost2022 G

FAT3

10C105019

chr11:
92600180-92600180

G

A

exonic

De novo

nonsynonymous SNV

NM_001008781

c.G11932A

p.V3978M

27.6

-

Fu2022 E

FAT3

1-0553-003

chr11:
92467054-92467054

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

70534

chr11:
92087350-92087350

A

C

exonic

De novo

nonsynonymous SNV

NM_001008781

c.A2072C

p.K691T

8.985

8.343E-6

Fu2022 E
Trost2022 G

FAT3

SSC07444

chr11:
92523301-92523301

C

T

exonic

De novo

nonsynonymous SNV

NM_001008781

c.C4528T

p.R1510W

23.0

4.146E-5

Fu2022 E
Trost2022 G

FAT3

A21

chr11:
92323259-92323259

C

G

intronic

De novo

-

Wu2018 G

FAT3

2-1370-003

chr11:
92600180-92600180

G

A

exonic

De novo

nonsynonymous SNV

NM_001008781

c.G11932A

p.V3978M

27.6

-

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

FAT3

1-0467-005

chr11:
92559748-92559748

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

7-0183-003

chr11:
92289686-92289686

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

1-0402-004

chr11:
92580133-92580133

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

14672.p1

chr11:
92087350-92087350

A

C

exonic

De novo

nonsynonymous SNV

NM_001008781

c.A2072C

p.K691T

8.985

8.343E-6

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

FAT3

13107.p1

chr11:
92523301-92523301

C

T

exonic

De novo

nonsynonymous SNV

NM_001008781

c.C4528T

p.R1510W

23.0

4.146E-5

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

FAT3

11202.p1

chr11:
92533228-92533228

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001008781

c.G7049A

p.R2350Q

16.66

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

FAT3

1-0352-005

chr11:
92634006-92634006

G

C

intergenic

De novo

-

Yuen2017 G

FAT3

2-1507-003

chr11:
92496405-92496405

C

T

intronic

De novo

-

Yuen2017 G

FAT3

MCD-005-3

chr11:
92577302-92577302

C

T

exonic

Paternal

nonsynonymous SNV

NM_001008781

c.C10769T

p.S3590L

13.88

-

Tuncay2023 G

FAT3

mAGRE5410

chr11:
92624131-92624131

C

A

exonic

De novo

nonsynonymous SNV

NM_001008781

c.C13526A

p.S4509Y

18.77

-

Cirnigliaro2023 G

FAT3

AU2019302

chr11:
92126405-92126405

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

A10

chr11:
92147137-92147137

G

T

intronic

De novo

-

Wu2018 G

FAT3

2-1461-003

chr11:
92647844-92647844

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAT3

PN400137

chr11:
92569867-92569867

C

T

exonic

Unknown

nonsynonymous SNV

NM_001008781

c.C10222T

p.R3408W

17.88

0.0022

Leblond2019 E

FAT3

More2023:14

chr11:
92534043-92534043

G

T

exonic

Inherited

nonsynonymous SNV

NM_001008781

c.G7864T

p.V2622F

18.45

0.004

More2023 G

FAT3

1-0820-003

chr11:
92328158-92328158

A

G

intronic

De novo

-

Yuen2017 G

FAT3

1-0403-003

chr11:
92417924-92417924

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

11341.p1

chr11:
92243124-92243124

A

G

intronic

De novo

-

Turner2016 G

FAT3

2-1632-003

chr11:
92300353-92300353

A

T

intronic

De novo

-

Yuen2017 G

FAT3

AU2089302

chr11:
92114429-92114429

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

AU4308302

chr11:
92538632-92538632

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

DEASD_0386_001

chr11:
92258103-92258103

A

G

exonic

De novo

nonsynonymous SNV

NM_001008781

c.A3596G

p.N1199S

23.2

0.0014

DeRubeis2014 E
Kosmicki2017 E

FAT3

2-0081-003

chr11:
92583250-92583250

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

2-1454-003

chr11:
92515311-92515332

CAATAATAATAATAATAATAAT

CAATAATAATAATAATAAT

intronic

De novo

-

Yuen2017 G

FAT3

2-1562-004

chr11:
92671970-92671970

G

GTTGTCTTTGGATATACTACAGCGATGGCTATTGAGGAGTAT

intergenic

De novo

-

Yuen2017 G

FAT3

1-0292-005

chr11:
92126875-92126875

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

Lim2017:70233

chr11:
92533228-92533228

G

A

exonic

De novo

nonsynonymous SNV

NM_001008781

c.G7049A

p.R2350Q

16.66

-

Lim2017 E

FAT3

Lim2017:70534

chr11:
92087350-92087350

A

C

exonic

De novo

nonsynonymous SNV

NM_001008781

c.A2072C

p.K691T

8.985

8.343E-6

Lim2017 E

FAT3

2-1085-003

chr11:
92221565-92221565

A

AAGCTGCT

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

2-1382-003

chr11:
92447888-92447888

T

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FAT3

2-1738-003

chr11:
92677798-92677798

C

T

intergenic

De novo

-

Yuen2017 G

FAT3

MSSNG00004-004

chr11:
92191467-92191467

G

A

intronic

De novo

-

Trost2022 G

FAT3

4-0028-003

chr11:
92198656-92198656

C

T

intronic

De novo

-

Trost2022 G

FAT3

3-0244-000

chr11:
92161811-92161811

G

A

intronic

De novo

-

Trost2022 G

FAT3

4-0111-003

chr11:
92170324-92170324

C

G

intronic

De novo

-

Trost2022 G

FAT3

3-0752-000

chr11:
92134684-92134684

G

A

intronic

De novo

-

Trost2022 G

FAT3

MSSNG00423-003

chr11:
92158084-92158084

T

G

intronic

De novo

-

Trost2022 G

FAT3

MSSNG00251-003

chr11:
92124561-92124561

C

G

intronic

De novo

-

Trost2022 G

FAT3

AU2463301

chr11:
92128867-92128867

C

T

intronic

De novo

-

Trost2022 G

FAT3

AU023012

chr11:
92277224-92277224

A

G

intronic

De novo

-

Trost2022 G

FAT3

AU2463301

chr11:
92283353-92283353

C

T

intronic

De novo

-

Trost2022 G

FAT3

2-1244-003

chr11:
92189889-92189890

GT

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FAT3

AU023012

chr11:
92262368-92262368

A

G

intronic

De novo

-

Trost2022 G

FAT3

MSSNG00013-003

chr11:
92263284-92263284

T

C

intronic

De novo

-

Trost2022 G

FAT3

1-1011-003

chr11:
92199994-92199994

C

A

intronic

De novo

-

Trost2022 G

FAT3

2-1727-003

chr11:
92250486-92250486

T

TAA

intronic

De novo

-

Trost2022 G

FAT3

2-1504-003

chr11:
92198687-92198687

A

G

intronic

De novo

-

Trost2022 G

FAT3

10C105645

chr11:
92600093-92600093

A

G

exonic

De novo

nonsynonymous SNV

NM_001008781

c.A11845G

p.T3949A

15.63

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FAT3

2-1504-003

chr11:
92198689-92198692

TGTG

T

intronic

De novo

-

Trost2022 G

FAT3

5-0140-003

chr11:
92568521-92568521

C

T

intronic

De novo

-

Yuen2017 G

FAT3

7-0260-003

chr11:
92412497-92412497

T

C

intronic

De novo

-

Trost2022 G

FAT3

7-0337-004

chr11:
92419283-92419283

G

C

intronic

De novo

-

Trost2022 G

FAT3

2-0014-003

chr11:
92382915-92382915

T

G

intronic

De novo

-

Trost2022 G

FAT3

2-1382-003

chr11:
92625344-92625356

AGTGTGTGTGTGT

AGTGTGTGTGT

UTR3

De novo

-

Yuen2017 G

FAT3

5-5165-003

chr11:
92388763-92388763

C

T

intronic

De novo

-

Trost2022 G

FAT3

MSSNG00422-003

chr11:
92308099-92308099

G

T

intronic

De novo

-

Trost2022 G

FAT3

REACH000182

chr11:
92370769-92370770

AT

A

intronic

De novo

-

Trost2022 G

FAT3

MCD-005-3

chr11:
92533549-92533549

G

A

exonic

Maternal

nonsynonymous SNV

NM_001008781

c.G7370A

p.R2457Q

16.31

2.0E-4

Tuncay2023 G

FAT3

MSSNG00030-004

chr11:
92300079-92300079

A

G

intronic

De novo

-

Trost2022 G

FAT3

1-0514-003

chr11:
92416152-92416152

G

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FAT3

2-0264-004

chr11:
92264576-92264576

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

5-1007-003

chr11:
92301254-92301254

T

C

intronic

De novo

-

Trost2022 G

FAT3

2-0202-003

chr11:
92186130-92186130

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

REACH000627

chr11:
92474848-92474848

G

T

intronic

De novo

-

Trost2022 G

FAT3

10-1104-003

chr11:
92478804-92478804

T

TAAAGTGC

intronic

De novo

-

Trost2022 G

FAT3

1-0403-004

chr11:
92479416-92479416

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

3-0402-000

chr11:
92451977-92451977

G

A

intronic

De novo

-

Trost2022 G

FAT3

1-0863-003

chr11:
92477528-92477528

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

1-0287-003

chr11:
92469007-92469007

A

G

intronic

De novo

-

Trost2022 G

FAT3

3-0419-000

chr11:
92435392-92435394

GTC

G

intronic

De novo

-

Trost2022 G

FAT3

MSSNG00153-003

chr11:
92439795-92439795

G

A

intronic

De novo

-

Trost2022 G

FAT3

7-0303-003

chr11:
92424599-92424599

T

G

intronic

De novo

-

Trost2022 G

FAT3

MSSNG00332-003

chr11:
92429122-92429122

A

C

intronic

De novo

-

Trost2022 G

FAT3

1027

chr11:
92629295-92629295

A

G

UTR3

De novo

-

Trost2022 G

FAT3

7-0249-003

chr11:
92264400-92264400

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

AU076509

chr11:
92677001-92677001

C

T

intergenic

De novo

-

Yuen2017 G

FAT3

2-1286-003

chr11:
92591423-92591423

G

C

intronic

De novo

-

Trost2022 G

FAT3

2-1818-003

chr11:
92626054-92626055

CA

C

UTR3

De novo

-

Trost2022 G

FAT3

2-1258-004

chr11:
92520292-92520292

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

5-0097-003

chr11:
92548467-92548467

A

G

intronic

De novo

-

Trost2022 G

FAT3

5-0072-003

chr11:
92586628-92586628

G

A

intronic

De novo

-

Trost2022 G

FAT3

1-1172-003

chr11:
92479348-92479348

T

C

intronic

De novo

-

Trost2022 G

FAT3

2-1097-003

chr11:
92502839-92502840

TT

AA

intronic

De novo

-

Trost2022 G

FAT3

AU009903

chr11:
92157798-92157798

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

SP0107613

chr11:
92570821-92570821

C

CAAG

intronic

De novo

-

Fu2022 E
Zhou2022 GE

FAT3

11990.p1

chr11:
92355213-92355213

C

G

intronic

De novo

-

Werling2018 G

FAT3

SP0111605

chr11:
92498091-92498091

G

A

exonic

De novo

nonsynonymous SNV

NM_001008781

c.G4031A

p.R1344H

27.9

1.661E-5

Fu2022 E
Zhou2022 GE

FAT3

SP0097681

chr11:
92534810-92534810

C

T

exonic

De novo

synonymous SNV

NM_001008781

c.C8631T

p.T2877T

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FAT3

2-1166-003

chr11:
92432819-92432819

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

FAT3

SP0058533

chr11:
92570935-92570935

C

T

exonic

De novo

nonsynonymous SNV

NM_001008781

c.C10331T

p.P3444L

20.4

-

Fu2022 E
Zhou2022 GE

FAT3

2-1620-004

chr11:
92489281-92489281

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

2-1620-004

chr11:
92608471-92608471

C

A

intronic

De novo

-

Yuen2017 G

FAT3

PN400424

chr11:
92569867-92569867

C

T

exonic

Unknown

nonsynonymous SNV

NM_001008781

c.C10222T

p.R3408W

17.88

0.0022

Leblond2019 E

FAT3

AU030104

chr11:
92611819-92611834

AAAAAAAAAAAAAAAG

A

intronic

De novo

-

Yuen2017 G

FAT3

5-0004-003

chr11:
92189734-92189734

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

1-0121-003

chr11:
92277974-92277974

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT3

1-0757-003

chr11:
92374287-92374287

A

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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