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Results for "CELF3"

Variant Events: 6

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
CELF3     2-1368-003chr1:
151684112-151684112
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CELF3     SP0008293chr1:
151687080-151687080
GAexonicDe novononsynonymous SNVNM_001172648
NM_001172649
NM_001291106
NM_001291107
NM_007185
c.C77T
c.C218T
c.C218T
c.C218T
c.C218T
p.T26M
p.T73M
p.T73M
p.T73M
p.T73M
20.5-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CELF3     SP0085026 Complex Event; expand row to view variants  De novo--Fu2022 E
Trost2022 G
Trost2022 G
CELF3     SP0033656chr1:
151682305-151682309
CTCTGCintronicDe novo--Fu2022 E
CELF3     2-0126-004chr1:
151672546-151672546
ACUTR3De novo--Trost2022 G
CELF3     403-09-112235chr1:
151681646-151681646
GAintronicDe novo--Satterstrom2020 E
Trost2022 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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