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Results for "CELF2"

Variant Events: 54

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     1-0985-003chr10:
11191397-11191397
TCintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     2-1318-004chr10:
11206707-11206708
TGTintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     1-1155-003chr10:
11051390-11051390
ACintronicDe novo--Trost2022 G
CELF2     MSSNG00247-003chr10:
11093516-11093516
CTintronicDe novo--Trost2022 G
CELF2     SP0035070chr10:
11047254-11047254
AGupstreamDe novo--Trost2022 G
CELF2     SP0086394chr10:
11047254-11047254
AGupstreamDe novo--Trost2022 G
CELF2     3-0416-000chr10:
11046527-11046527
TCupstreamDe novo--Trost2022 G
CELF2     5-0025-004chr10:
11238974-11238974
AAGintronicDe novo--Yuen2017 G
CELF2     SP0033073chr10:
11047254-11047254
AGupstreamDe novo--Trost2022 G
CELF2     1-1172-003chr10:
11237552-11237552
GAintronicDe novo--Trost2022 G
CELF2     1-0469-005chr10:
11216378-11216378
AGintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     SJD_23.3chr10:
11246429-11246429
GAintronicDe novo--Trost2022 G
CELF2     3-0368-000chr10:
11223310-11223310
GCintronicDe novo--Trost2022 G
CELF2     2-0197-004chr10:
11186159-11186159
CTintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     1005chr10:
11236217-11236217
CTintronicDe novo--Trost2022 G
CELF2     5-0018-003chr10:
11238956-11238956
GGAAGGAAAintronicDe novo--Yuen2017 G
CELF2     2-1416-003Achr10:
11154872-11154872
GAintronicDe novo--Trost2022 G
CELF2     2-0300-003chr10:
11049108-11049108
TCintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     7-0321-003Achr10:
11162931-11162931
GAintronicDe novo--Trost2022 G
CELF2     4-0096-003chr10:
11325842-11325842
GAintronicDe novo--Trost2022 G
CELF2     AU4159301chr10:
11161835-11161835
CAintronicDe novo--Yuen2017 G
CELF2     MT_166.3chr10:
11326412-11326412
GAintronicDe novo--Trost2022 G
CELF2     MT_48.3chr10:
11309641-11309645
TTTTGTintronicDe novo--Trost2022 G
CELF2     2-1089-004chr10:
11238966-11238966
AAAGintronicDe novo--Yuen2017 G
CELF2     3-0654-000chr10:
11313892-11313892
CTintronicDe novo--Trost2022 G
CELF2     3-0409-000chr10:
11281199-11281199
TGintronicDe novo--Trost2022 G
CELF2     3-0223-000chr10:
11305812-11305812
AGintronicDe novo--Trost2022 G
CELF2     7-0332-003chr10:
11248469-11248469
CTintronicDe novo--Trost2022 G
CELF2     AU4033303chr10:
11322472-11322472
GAintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     2-1809-003chr10:
11268708-11268708
GAintronicDe novo--Trost2022 G
CELF2     7-0100-004chr10:
11096506-11096506
TCintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     AU3874301chr10:
11060483-11060483
GAintronicDe novo--Yuen2017 G
CELF2     1-0928-003chr10:
11339490-11339490
GAintronicDe novo--Trost2022 G
CELF2     MSSNG00437-004chr10:
11343307-11343307
GAintronicDe novo--Trost2022 G
CELF2     AU2988302chr10:
11260750-11260750
ATintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     AU071204chr10:
11060491-11060491
GTintronicDe novo--Yuen2017 G
CELF2     AU2458303chr10:
11348009-11348009
CTintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     AU4452302chr10:
11086420-11086420
TAintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     2-1178-003 Complex Event; expand row to view variants  De novoframeshift insertionNM_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     SP0087382chr10:
11312678-11312680
AAGAexonicDe novoframeshift deletionNM_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_232Pchr10:
11207481-11207481
TAexonicDe novostopgainNM_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     SP0042329chr10:
11367868-11367868
TCexonicDe novononsynonymous SNVNM_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     AU3368303chr10:
11172567-11172567
AGintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     5-0003-003chr10:
11238956-11238956
GGAAAintronicDe novo--Yuen2017 G
CELF2     SP0061943chr10:
11059862-11059862
GCintronicDe novo--Fu2022 E
Trost2022 G
CELF2     2-1421-003chr10:
11333136-11333136
ACintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CELF2     2-0198-004chr10:
11239022-11239022
AAGGAAGGintronicDe novo--Yuen2017 G
CELF2     11252.p1chr10:
11055464-11055464
GTintronicDe novo--Turner2016 G
CELF2     2-1416-004chr10:
11154872-11154872
GAintronicDe novo--Yuen2017 G
CELF2     AU046904chr10:
11096106-11096106
TGintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     AU2988303chr10:
11260750-11260750
ATintronicDe novo--Yuen2017 G
CELF2     2-1368-003chr10:
11246378-11246378
CAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CELF2     AU2569301chr10:
11352970-11352970
CTintronicDe novo--Trost2022 G
Yuen2017 G
CELF2     1-0606-003chr10:
11047220-11047220
AGupstreamDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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