Variant Results

or

Results for "FAT1"

Variant Events: 71

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

FAT1

AU045514

chr4:
187567287-187567287

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT1

Cukier2014:17545

chr4:
187549364-187549364

G

A

exonic

Unknown

nonsynonymous SNV

NM_005245

c.C4754T

p.T1585M

15.86

0.0066

Cukier2014 E

FAT1

Cukier2014:17545

chr4:
187557908-187557908

C

T

exonic

Unknown

nonsynonymous SNV

NM_005245

c.G3803A

p.R1268Q

9.811

0.0065

Cukier2014 E

FAT1

1-0389-004

chr4:
188198114-188198114

A

ACCAGTTGCT

intergenic

De novo

-

Yuen2017 G

FAT1

2-1329-003

chr4:
187672767-187672767

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAT1

MT_160.4

chr4:
187582725-187582725

C

A

intronic

De novo

-

Trost2022 G

FAT1

MSSNG00432-003

chr4:
187583062-187583062

C

A

intronic

De novo

-

Trost2022 G

FAT1

3G089

chr4:
187524861-187524861

T

C

exonic

De novo

nonsynonymous SNV

NM_005245

c.A10819G

p.I3607V

4.749

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FAT1

SP0117591

chr4:
187510202-187510203

TG

T

exonic

De novo

frameshift deletion

NM_005245

c.13310delC

p.P4437fs

-

Trost2022 G

FAT1

3-0515-001

chr4:
187632812-187632812

C

T

intronic

De novo

-

Trost2022 G

FAT1

AU2863303

chr4:
188165717-188165724

GTTTTTTT

GTTTTTT

intergenic

De novo

-

Yuen2017 G

FAT1

3-0282-000

chr4:
187603185-187603185

G

T

intronic

De novo

-

Trost2022 G

FAT1

5-5237-003

chr4:
187615020-187615020

C

T

intronic

De novo

-

Trost2022 G

FAT1

REACH000735

chr4:
187600608-187600608

G

A

intronic

De novo

-

Trost2022 G

FAT1

GM180938

chr4:
187538415-187538415

C

T

intronic

De novo

-

Fu2022 E

FAT1

3-0282-000

chr4:
187603183-187603183

A

ATATG

intronic

De novo

-

Trost2022 G

FAT1

MSSNG00420-003

chr4:
187588482-187588482

C

A

intronic

De novo

-

Trost2022 G

FAT1

MSSNG00174-003

chr4:
187597416-187597416

T

C

intronic

De novo

-

Trost2022 G

FAT1

SP0033777

chr4:
187557927-187557927

G

A

exonic

De novo

stopgain

NM_005245

c.C3784T

p.R1262X

39.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FAT1

SP0046135

chr4:
187518928-187518928

G

C

exonic

De novo

stopgain

NM_005245

c.C12276G

p.Y4092X

54.0

-

Fu2022 E

FAT1

PN400499

chr4:
187549725-187549725

G

A

exonic

Unknown

nonsynonymous SNV

NM_005245

c.C4516T

p.R1506C

18.9

3.0E-4

Leblond2019 E

FAT1

1-0273-004

chr4:
187731410-187731410

T

C

intergenic

De novo

-

Yuen2017 G

FAT1

5-0095-003

chr4:
188019246-188019246

G

A

intergenic

De novo

-

Yuen2017 G

FAT1

2-1460-003

chr4:
187959157-187959157

G

A

intergenic

De novo

-

Yuen2017 G

FAT1

SP0042710

chr4:
187510257-187510257

G

A

exonic

De novo

nonsynonymous SNV

NM_005245

c.C13256T

p.A4419V

11.83

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FAT1

SP0067003

chr4:
187518060-187518060

G

C

exonic

De novo

nonsynonymous SNV

NM_005245

c.C12634G

p.H4212D

2.493

-

Fu2022 E
Trost2022 G
Zhou2022 GE

FAT1

SP0135020

chr4:
187517668-187517668

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

FAT1

1-0330-003

chr4:
187777630-187777630

T

C

intergenic

De novo

-

Yuen2017 G

FAT1

SP0050637

chr4:
187517785-187517785

G

A

exonic

De novo

synonymous SNV

NM_005245

c.C12909T

p.S4303S

10.75

4.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

FAT1

1-0763-003

chr4:
187656579-187656579

G

T

intergenic

De novo

-

Yuen2017 G

FAT1

A20

chr4:
187813080-187813080

C

T

intergenic

De novo

-

Wu2018 G

FAT1

2-1131-003

chr4:
188078133-188078133

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAT1

2-1430-003

chr4:
188165177-188165177

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAT1

1-0460-003

chr4:
188101168-188101168

G

A

intergenic

De novo

-

Yuen2017 G

FAT1

2-1382-003

chr4:
187874081-187874081

C

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FAT1

AU3712301

chr4:
188121499-188121499

C

T

intergenic

De novo

-

Yuen2017 G

FAT1

1-0044-003

chr4:
187728815-187728815

T

C

intergenic

De novo

-

Yuen2017 G

FAT1

2-1508-004

chr4:
187718361-187718361

G

C

intergenic

De novo

-

Yuen2017 G

FAT1

2-1350-004

chr4:
187865565-187865565

G

T

intergenic

De novo

-

Yuen2017 G

FAT1

11189.p1

chr4:
187549328-187549328

A

T

exonic

De novo

nonsynonymous SNV

NM_005245

c.T4790A

p.V1597E

26.1

-

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

FAT1

SP0100431

chr4:
187542428-187542428

G

A

exonic

nonsynonymous SNV

NM_005245

c.C5312T

p.T1771I

0.016

-

Zhou2022 GE

FAT1

2-1254-003

chr4:
187804804-187804804

T

C

intergenic

De novo

-

Yuen2016 G

FAT1

MSSNG00183-003

chr4:
187519280-187519280

C

T

splicing

De novo

splicing

16.95

-

Trost2022 G
Zhou2022 GE

FAT1

PN400371

chr4:
187524743-187524743

C

T

exonic

Unknown

nonsynonymous SNV

NM_005245

c.G10937A

p.R3646H

27.5

9.94E-5

Leblond2019 E

FAT1

MCD-024-3

chr4:
187538263-187538263

T

A

exonic

Paternal

nonsynonymous SNV

NM_005245

c.A8971T

p.N2991Y

1.859

-

Tuncay2023 G

FAT1

AU074403

chr4:
188092506-188092506

A

G

intergenic

De novo

-

Yuen2017 G

FAT1

AU3716302

chr4:
188094677-188094677

T

C

intergenic

De novo

-

Yuen2017 G

FAT1

11254.p1

chr4:
187530305-187530305

G

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

FAT1

14165.p1

chr4:
187629244-187629244

T

G

exonic

Mosaic Pat.

synonymous SNV

NM_005245

c.A1738C

p.R580R

-

Dou2017 E

FAT1

AU4223302

chr4:
187650527-187650527

C

T

intergenic

De novo

-

Yuen2017 G

FAT1

1-0553-003

chr4:
188001240-188001240

A

C

intergenic

De novo

-

Yuen2017 G

FAT1

2-1562-003

chr4:
187604279-187604279

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT1

Lim2017:35842

chr4:
187549328-187549328

A

T

exonic

De novo

nonsynonymous SNV

NM_005245

c.T4790A

p.V1597E

26.1

-

Lim2017 E

FAT1

07C70281

chr4:
187538324-187538324

T

G

exonic

De novo

nonsynonymous SNV

NM_005245

c.A8910C

p.E2970D

9.697

-

Neale2012 E

FAT1

MCD-024-3

chr4:
187629414-187629414

T

C

exonic

Maternal

nonsynonymous SNV

NM_005245

c.A1568G

p.E523G

13.65

-

Tuncay2023 G

FAT1

2-1730-003

chr4:
188222391-188222395

GCCCC

GCCC

intergenic

De novo

-

Yuen2017 G

FAT1

MR_755_B

chr4:
187518791-187518791

C

T

intronic

De novo

-

5.458E-5

Satterstrom2020 E
Trost2022 G

FAT1

09C98909

chr4:
187524608-187524608

T

C

exonic

De novo

nonsynonymous SNV

NM_005245

c.A11072G

p.H3691R

10.87

-

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

FAT1

1360JS0006

chr4:
187538324-187538324

T

G

exonic

De novo

nonsynonymous SNV

NM_005245

c.A8910C

p.E2970D

9.697

-

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

FAT1

3C563

chr4:
187557396-187557396

C

A

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

FAT1

2-0307-003

chr4:
188046773-188046773

T

C

intergenic

De novo

-

Yuen2017 G

FAT1

AU4235303

chr4:
187968277-187968277

G

A

intergenic

De novo

-

Yuen2017 G

FAT1

SP0006235

chr4:
187519280-187519280

C

T

splicing

De novo

splicing

16.95

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

FAT1

35842

chr4:
187549328-187549328

A

T

exonic

De novo

nonsynonymous SNV

NM_005245

c.T4790A

p.V1597E

26.1

-

Fu2022 E
Trost2022 G

FAT1

AU3885305

chr4:
187934684-187934684

C

T

intergenic

De novo

-

Yuen2017 G

FAT1

TRE_92

chr4:
187534261-187534261

A

C

splicing

De novo

splicing

11.45

-

Fu2022 E

FAT1

AU4145301

chr4:
187578669-187578669

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

FAT1

Cukier2014:37037

chr4:
187518041-187518041

T

C

exonic

Unknown

nonsynonymous SNV

NM_005245

c.A12653G

p.D4218G

14.12

0.0107

Cukier2014 E

FAT1

mAGRE5442

chr4:
187628728-187628730

GTT

G

exonic

Paternal

frameshift deletion

NM_005245

c.2252_2253del

p.K751fs

-

Cirnigliaro2023 G

FAT1

mAGRE5452

chr4:
187539120-187539120

C

A

exonic

Paternal

stopgain

NM_005245

c.G8620T

p.E2874X

51.0

8.281E-6

Cirnigliaro2023 G

FAT1

mAGRE5451

chr4:
187539120-187539120

C

A

exonic

Paternal

stopgain

NM_005245

c.G8620T

p.E2874X

51.0

8.281E-6

Cirnigliaro2023 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
	More