Variant Results

or

Results for "CELF4"

Variant Events: 75

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

CELF4

2-1715-003

chr18:
34864003-34864003

C

CA

intronic

De novo

-

Yuen2017 G

CELF4

1-0652-004

chr18:
34967430-34967430

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

Mahjani2021:142

chr18:
34855146-34855146

C

A

exonic

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.G509T
c.G506T
c.G479T
c.G509T

p.R170L
p.R169L
p.R160L
p.R170L

20.4

8.38E-6

Mahjani2021 E

CELF4

2-1644-004

chr18:
34863893-34863893

C

CACTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

AU079605

chr18:
35032785-35032785

G

A

intronic

De novo

-

Yuen2017 G

CELF4

A11

chr18:
34991296-34991296

C

T

intronic

De novo

-

Wu2018 G

CELF4

AU4067301

chr18:
34972944-34972946

CCT

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

14214.p1

chr18:
34855162-34855162

C

A

exonic

De novo

stopgain

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.G493T
c.G490T
c.G463T
c.G493T

p.E165X
p.E164X
p.E155X
p.E165X

40.0

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

CELF4

1-0541-004

chr18:
34863893-34863893

C

CACACACACTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

1-0303-004

chr18:
34863905-34863905

C

CACACACAACATA

intronic

De novo

-

Yuen2017 G

CELF4

AU072504

chr18:
34888581-34888581

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

1-0677-003

chr18:
34844729-34844729

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

08C74427

chr18:
34844598-34844598

G

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

CELF4

1-0184-003

chr18:
35009271-35009286

CTGTGTGTGTGTGTGT

CTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

CELF4

2-0144-004

chr18:
34863912-34863912

T

TACACACAACATACACACATATACACATAC

intronic

De novo

-

Yuen2017 G

CELF4

EGAN00001101315

chr18:
34839080-34839080

C

T

intronic

De novo

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CELF4

1-0882-003

chr18:
35227611-35227611

G

A

intergenic

De novo

-

Yuen2017 G

CELF4

G01-GEA-111-HI

chr18:
34846529-34846529

G

A

exonic

De novo

stopgain

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.C1129T
c.C1126T
c.C1102T
c.C1132T

p.Q377X
p.Q376X
p.Q368X
p.Q378X

41.0

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CELF4

63-343

chr18:
35094644-35094644

G

A

intronic

De novo

-

Michaelson2012 G

CELF4

iHART1776

chr18:
34846538-34846538

G

C

exonic

De novo

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.C1120G
c.C1117G
c.C1093G
c.C1123G

p.P374A
p.P373A
p.P365A
p.P375A

15.25

-

Ruzzo2019 G

CELF4

AU066404

chr18:
34922481-34922481

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

1-0826-003

chr18:
34987927-34987927

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

AU4336301

chr18:
34844563-34844563

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

SSC11202

chr18:
34855162-34855162

C

A

exonic

De novo

stopgain

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.G493T
c.G490T
c.G463T
c.G493T

p.E165X
p.E164X
p.E155X
p.E165X

40.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

CELF4

1-0007-003

chr18:
34854815-34854815

C

G

exonic

De novo

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.G610C
c.G607C
c.G580C
c.G610C

p.E204Q
p.E203Q
p.E194Q
p.E204Q

22.2

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

CELF4

AU3397302

chr18:
35194548-35194548

C

T

intergenic

De novo

-

Yuen2017 G

CELF4

2-1339-003

chr18:
34863975-34863975

A

C

intronic

De novo

-

Yuen2017 G

CELF4

2-0286-004

chr18:
35067388-35067388

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

1-1148-003

chr18:
34848244-34848244

G

A

intronic

De novo

-

Trost2022 G

CELF4

1-0956-003

chr18:
34863893-34863893

C

CACACTG

intronic

De novo

-

Trost2022 G

CELF4

7-0335-003

chr18:
34835596-34835596

G

C

intronic

De novo

-

Trost2022 G

CELF4

1-0144-004

chr18:
34863893-34863893

C

CACACACACTG

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

7-0191-003

chr18:
34863926-34863926

C

CACATACACACACCAA

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

3-0193-000

chr18:
34837191-34837191

T

C

intronic

De novo

-

Trost2022 G

CELF4

SP0115698

chr18:
34854796-34854796

T

C

exonic

De novo

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.A629G
c.A626G
c.A599G
c.A629G

p.N210S
p.N209S
p.N200S
p.N210S

9.171

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CELF4

SP0270749

chr18:
35145432-35145432

A

G

exonic

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.T173C
c.T173C
c.T173C
c.T173C

p.I58T
p.I58T
p.I58T
p.I58T

17.55

-

Zhou2022 GE

CELF4

SP0206725

chr18:
35065561-35065561

A

C

exonic

De novo

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.T296G
c.T296G
c.T296G
c.T296G

p.F99C
p.F99C
p.F99C
p.F99C

22.7

-

Trost2022 G
Zhou2022 GE

CELF4

2-1243-003

chr18:
34864187-34864187

G

CCCCCAACACACACACACCCCCA

intronic

De novo

-

Trost2022 G

CELF4

1-0052-003

chr18:
34864187-34864187

G

CACACATACAGACACCAATACATACACC

intronic

De novo

-

Trost2022 G

CELF4

4-0049-003

chr18:
34864086-34864089

CCCT

ACACA

intronic

De novo

-

Trost2022 G

CELF4

mAGRE1776

chr18:
34846538-34846538

G

C

exonic

De novo

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.C1120G
c.C1117G
c.C1093G
c.C1123G

p.P374A
p.P373A
p.P365A
p.P375A

15.25

-

Cirnigliaro2023 G

CELF4

10-0006-003

chr18:
34864091-34864091

A

ACAC

intronic

De novo

-

Trost2022 G

CELF4

2-1286-003

chr18:
34864049-34864049

C

CACA

intronic

De novo

-

Trost2022 G

CELF4

10-0006-003

chr18:
34864085-34864089

CCCCT

ACACA

intronic

De novo

-

Trost2022 G

CELF4

3-0221-000

chr18:
34863893-34863893

C

CACACACACACTG

intronic

De novo

-

Trost2022 G

CELF4

AU3786301

chr18:
34914809-34914809

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

3-0515-001

chr18:
34863958-34863958

A

ATACACACACACACACACACTG

intronic

De novo

-

Trost2022 G

CELF4

1-0945-003

chr18:
34952986-34952986

A

T

intronic

De novo

-

Trost2022 G

CELF4

AU2571301

chr18:
34969139-34969139

G

A

intronic

De novo

-

Trost2022 G

CELF4

SJD_59.3

chr18:
34874912-34874912

G

A

intronic

De novo

-

Trost2022 G

CELF4

E3F6Y_01

chr18:
34931377-34931377

A

G

intronic

De novo

-

Trost2022 G

CELF4

1-0112-004

chr18:
34884002-34884002

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

2-1456-003

chr18:
34864267-34864267

G

ACACACACCA

intronic

De novo

-

Trost2022 G

CELF4

2-1109-004

chr18:
34864267-34864267

G

ACACACACCA

intronic

De novo

-

Trost2022 G

CELF4

1-0292-005

chr18:
34864250-34864252

CAG

TATACCCCAAC

intronic

De novo

-

Trost2022 G

CELF4

1-0292-005

chr18:
34864261-34864261

C

A

intronic

De novo

-

Trost2022 G

CELF4

1-0054-004

chr18:
35195983-35195983

T

C

intergenic

De novo

-

Yuen2017 G

CELF4

MSSNG00378-003

chr18:
35090205-35090205

T

C

intronic

De novo

-

Trost2022 G

CELF4

1-0338-005

chr18:
35095862-35095862

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

AU2299301

chr18:
35094464-35094464

C

A

intronic

De novo

-

Trost2022 G

CELF4

4-0081-003

chr18:
35059955-35059955

G

A

intronic

De novo

-

Trost2022 G

CELF4

ASC_CA_59_A

chr18:
34854331-34854331

C

A

exonic

De novo

nonsynonymous SNV

NM_001025087
NM_001025088
NM_001025089
NM_020180

c.G744T
c.G741T
c.G714T
c.G744T

p.M248I
p.M247I
p.M238I
p.M248I

19.45

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CELF4

2-1820-003

chr18:
35025639-35025639

C

T

intronic

De novo

-

Trost2022 G

CELF4

7-0457-004

chr18:
35042187-35042187

C

T

intronic

De novo

-

Trost2022 G

CELF4

2-0319-004

chr18:
35029123-35029123

T

C

intronic

De novo

-

Yuen2017 G

CELF4

AU2293301

chr18:
35034819-35034819

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

AUTPGX_1020

chr18:
35014360-35014360

C

T

intronic

De novo

-

Trost2022 G

CELF4

AU2218301

chr18:
35018484-35018484

G

A

intronic

De novo

-

Trost2022 G

CELF4

AU071703

chr18:
34827652-34827652

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF4

3-0646-000

chr18:
35119743-35119762

GATTTTTAAATTACATTGGA

G

intronic

De novo

-

Trost2022 G

CELF4

5-0009-003

chr18:
35122739-35122739

T

G

intronic

De novo

-

Trost2022 G

CELF4

1-0955-003

chr18:
35097790-35097790

C

T

intronic

De novo

-

Trost2022 G

CELF4

REACH000540

chr18:
35117118-35117118

T

G

intronic

De novo

-

Trost2022 G

CELF4

REACH000159

chr18:
35096869-35096869

C

T

intronic

De novo

-

Trost2022 G

CELF4

MSSNG00347-003

chr18:
35097683-35097683

C

T

intronic

De novo

-

Trost2022 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