Variant Results

or

Results for "CELF2"

Variant Events: 60

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

CELF2

1-0985-003

chr10:
11191397-11191397

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

2-1318-004

chr10:
11206707-11206708

TG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

1-1155-003

chr10:
11051390-11051390

A

C

intronic

De novo

-

Trost2022 G

CELF2

MSSNG00247-003

chr10:
11093516-11093516

C

T

intronic

De novo

-

Trost2022 G

CELF2

SP0035070

chr10:
11047254-11047254

A

G

upstream

De novo

-

Trost2022 G

CELF2

SP0086394

chr10:
11047254-11047254

A

G

upstream

De novo

-

Trost2022 G

CELF2

3-0416-000

chr10:
11046527-11046527

T

C

upstream

De novo

-

Trost2022 G

CELF2

5-0025-004

chr10:
11238974-11238974

A

AG

intronic

De novo

-

Yuen2017 G

CELF2

SP0033073

chr10:
11047254-11047254

A

G

upstream

De novo

-

Trost2022 G

CELF2

1-1172-003

chr10:
11237552-11237552

G

A

intronic

De novo

-

Trost2022 G

CELF2

1-0469-005

chr10:
11216378-11216378

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

SJD_23.3

chr10:
11246429-11246429

G

A

intronic

De novo

-

Trost2022 G

CELF2

3-0368-000

chr10:
11223310-11223310

G

C

intronic

De novo

-

Trost2022 G

CELF2

2-0197-004

chr10:
11186159-11186159

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

1005

chr10:
11236217-11236217

C

T

intronic

De novo

-

Trost2022 G

CELF2

5-0018-003

chr10:
11238956-11238956

G

GAAGGAAA

intronic

De novo

-

Yuen2017 G

CELF2

2-1416-003A

chr10:
11154872-11154872

G

A

intronic

De novo

-

Trost2022 G

CELF2

2-0300-003

chr10:
11049108-11049108

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

7-0321-003A

chr10:
11162931-11162931

G

A

intronic

De novo

-

Trost2022 G

CELF2

4-0096-003

chr10:
11325842-11325842

G

A

intronic

De novo

-

Trost2022 G

CELF2

AU4159301

chr10:
11161835-11161835

C

A

intronic

De novo

-

Yuen2017 G

CELF2

MT_166.3

chr10:
11326412-11326412

G

A

intronic

De novo

-

Trost2022 G

CELF2

MT_48.3

chr10:
11309641-11309645

TTTTG

T

intronic

De novo

-

Trost2022 G

CELF2

2-1089-004

chr10:
11238966-11238966

A

AAG

intronic

De novo

-

Yuen2017 G

CELF2

3-0654-000

chr10:
11313892-11313892

C

T

intronic

De novo

-

Trost2022 G

CELF2

3-0409-000

chr10:
11281199-11281199

T

G

intronic

De novo

-

Trost2022 G

CELF2

3-0223-000

chr10:
11305812-11305812

A

G

intronic

De novo

-

Trost2022 G

CELF2

7-0332-003

chr10:
11248469-11248469

C

T

intronic

De novo

-

Trost2022 G

CELF2

AU4033303

chr10:
11322472-11322472

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

2-1809-003

chr10:
11268708-11268708

G

A

intronic

De novo

-

Trost2022 G

CELF2

7-0100-004

chr10:
11096506-11096506

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

AU3874301

chr10:
11060483-11060483

G

A

intronic

De novo

-

Tan2024 GE
Yuen2017 G

CELF2

1-0928-003

chr10:
11339490-11339490

G

A

intronic

De novo

-

Trost2022 G

CELF2

MSSNG00437-004

chr10:
11343307-11343307

G

A

intronic

De novo

-

Trost2022 G

CELF2

AU2988302

chr10:
11260750-11260750

A

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

AU071204

chr10:
11060491-11060491

G

T

intronic

De novo

-

Tan2024 GE
Yuen2017 G

CELF2

AU2458303

chr10:
11348009-11348009

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

AU4452302

chr10:
11086420-11086420

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

2-1178-003

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001025076
NM_001025077
NM_001083591
NM_006561
NM_001025076
NM_001025077
NM_001083591
NM_006561

c.324dupA
c.396dupA
c.324dupA
c.417dupA
c.327dupA
c.399dupA
c.327dupA
c.420dupA

p.R108fs
p.R132fs
p.R108fs
p.R139fs
p.K109fs
p.K133fs
p.K109fs
p.K140fs

-

Yuen2016 G
Yuen2017 G
Zhou2022 GE

CELF2

SP0182940

chr10:
11182227-11182227

C

T

intronic

De novo

-

Tan2024 GE

CELF2

SP0087382

chr10:
11312678-11312680

AAG

A

exonic

De novo

frameshift deletion

NM_001025076
NM_001025077
NM_001083591
NM_006561

c.576_577del
c.648_649del
c.576_577del
c.669_670del

p.K192fs
p.K216fs
p.K192fs
p.K223fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

CELF2

Disecmas_232P

chr10:
11207481-11207481

T

A

exonic

De novo

stopgain

NM_001025076
NM_001025077
NM_001083591
NM_006561

c.T14A
c.T86A
c.T14A
c.T107A

p.L5X
p.L29X
p.L5X
p.L36X

42.0

-

Fu2022 E

CELF2

SP0042329

chr10:
11367868-11367868

T

C

exonic

De novo

nonsynonymous SNV

NM_001025076
NM_001025077
NM_001083591
NM_006561

c.T1271C
c.T1325C
c.T1265C
c.T1364C

p.M424T
p.M442T
p.M422T
p.M455T

7.989

-

Fu2022 E
Zhou2022 GE

CELF2

AU3368303

chr10:
11172567-11172567

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

5-0003-003

chr10:
11238956-11238956

G

GAAA

intronic

De novo

-

Yuen2017 G

CELF2

SP0061943

chr10:
11059862-11059862

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

CELF2

2-1421-003

chr10:
11333136-11333136

A

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CELF2

2-0198-004

chr10:
11239022-11239022

A

AGGAAGG

intronic

De novo

-

Yuen2017 G

CELF2

11252.p1

chr10:
11055464-11055464

G

T

intronic

De novo

-

Turner2016 G

CELF2

2-1416-004

chr10:
11154872-11154872

G

A

intronic

De novo

-

Yuen2017 G

CELF2

AU046904

chr10:
11096106-11096106

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

AU2988303

chr10:
11260750-11260750

A

T

intronic

De novo

-

Yuen2017 G

CELF2

2-1368-003

chr10:
11246378-11246378

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CELF2

AU2569301

chr10:
11352970-11352970

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CELF2

1-0606-003

chr10:
11047220-11047220

A

G

upstream

De novo

-

Yuen2017 G

CELF2

IBS-ASD-15803-blood-wgs-ILLUMINA

chr10:
11301352-11301352

G

T

intronic

De novo

-

Kim2024 G

CELF2

IBS-ASD-13283-blood-wgs-ILLUMINA

chr10:
11295281-11295281

C

G

intronic

De novo

-

Kim2024 G

CELF2

IBS-ASD-20153-blood-wgs-ILLUMINA

chr10:
11266486-11266486

G

A

intronic

De novo

-

Kim2024 G

CELF2

IBS-ASD-17443-blood-wgs-ILLUMINA

chr10:
11202918-11202918

C

T

intronic

De novo

-

Kim2024 G

CELF2

IBS-ASD-19753-blood-wgs-ILLUMINA

chr10:
11149827-11149827

A

ACCTCCTCCCTTCTCCCATCTCCTCCCTTCTCCCATCTCCTCCCTTCTC

intronic

De novo

-

Kim2024 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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