Variant Results

or

Results for "FAT4"

Variant Events: 19

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

FAT4

Cukier2014:7713

chr4:
126373570-126373570

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.C11405T
c.C11405T
c.C11399T

p.S3802F
p.S3802F
p.S3800F

17.63

0.0373

Cukier2014 E

FAT4

12275_p1

chr4:
126238145-126238145

G

A

exonic

De novo

synonymous SNV

NM_001291285
NM_001291303
NM_024582

c.G579A
c.G579A
c.G579A

p.P193P
p.P193P
p.P193P

-

Fu2022 E

FAT4

08C74272

chr4:
126336648-126336648

T

G

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.T6530G
c.T6530G
c.T6530G

p.F2177C
p.F2177C
p.F2177C

7.46

-

Fu2022 E

FAT4

1-0261-004

chr4:
126263525-126263525

A

T

intronic

De novo

-

Yuen2017 G

FAT4

AU2437302

chr4:
126272481-126272481

C

T

intronic

De novo

-

Yuen2017 G

FAT4

AU3900301

chr4:
126244573-126244573

C

T

intronic

De novo

-

Yuen2017 G

FAT4

iHART1762

chr4:
126336059-126336059

T

C

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.T5941C
c.T5941C
c.T5941C

p.Y1981H
p.Y1981H
p.Y1981H

19.7

-

Ruzzo2019 G

FAT4

5-0129-003

chr4:
126371584-126371584

C

A

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.C9419A
c.C9419A
c.C9413A

p.A3140E
p.A3140E
p.A3138E

12.21

-

Yuen2017 G

FAT4

SP0006092

chr4:
126370689-126370689

C

G

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.C8524G
c.C8524G
c.C8518G

p.R2842G
p.R2842G
p.R2840G

18.0

-

Fu2022 E

FAT4

05HI3916A

chr4:
126389771-126389771

T

C

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.T12010C
c.T12010C
c.T12004C

p.F4004L
p.F4004L
p.F4002L

28.9

-

Fu2022 E
Satterstrom2020 E

FAT4

SP0123987

chr4:
126373955-126373955

T

C

exonic

De novo

synonymous SNV

NM_001291285
NM_001291303
NM_024582

c.T11790C
c.T11790C
c.T11784C

p.T3930T
p.T3930T
p.T3928T

-

Fu2022 E

FAT4

12275.p1

chr4:
126238145-126238145

G

A

exonic

De novo

synonymous SNV

NM_001291285
NM_001291303
NM_024582

c.G579A
c.G579A
c.G579A

p.P193P
p.P193P
p.P193P

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

FAT4

AU058104

chr4:
126347944-126347944

A

C

intronic

De novo

-

Yuen2017 G

FAT4

AU3951301

chr4:
126256162-126256162

T

C

intronic

De novo

-

Yuen2017 G

FAT4

ASDFI_986

chr4:
126240148-126240148

T

A

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.T2582A
c.T2582A
c.T2582A

p.F861Y
p.F861Y
p.F861Y

8.068

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

FAT4

09C83023

chr4:
126336650-126336650

G

A

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.G6532A
c.G6532A
c.G6532A

p.A2178T
p.A2178T
p.A2178T

15.82

1.0E-4

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

FAT4

1-0206-003

chr4:
126344437-126344437

G

GAAGTCCTGGATGGACTTCCCATCAT

intronic

De novo

-

Yuen2017 G

FAT4

09C81416

chr4:
126411350-126411350

C

T

exonic

De novo

nonsynonymous SNV

NM_001291285
NM_001291303
NM_024582

c.C13376T
c.C13379T
c.C13373T

p.T4459M
p.T4460M
p.T4458M

8.247

8.239E-6

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E

FAT4

2-1381-003

chr4:
126414815-126414815

C

T

downstream

De novo

-

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
	More