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Results for "CREBRF"

Variant Events: 17

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
CREBRF     1-0148-005chr5:
172557148-172557148
AGintronicDe novo--Trost2022 G
Yuen2017 G
CREBRF     1-0563-003chr5:
172507665-172507666
TGTUTR5De novo--Trost2022 G
Yuen2017 G
CREBRF     7-0390-003chr5:
172552547-172552549
CAGCintronicDe novo--Trost2022 G
CREBRF     4-0088-003chr5:
172552904-172552904
GCintronicDe novo--Trost2022 G
CREBRF     12274.p1chr5:
172550144-172550144
AGexonicMosaicsynonymous SNVNM_153607c.A1743Gp.P581P-8.249E-6Krupp2017 E
CREBRF     1-0206-003chr5:
172532299-172532299
CTintronicDe novo--Trost2022 G
Yuen2017 G
CREBRF     G01-GEA-203-HIchr5:
172550187-172550187
CAexonicDe novononsynonymous SNVNM_153607c.C1786Ap.L596I13.68-Fu2022 E
CREBRF     AU4487302chr5:
172567316-172567316
TCintergenicDe novo--Yuen2017 G
CREBRF     13760.p1chr5:
172513676-172513676
ACintronicDe novo--Satterstrom2020 E
CREBRF     AU0786305chr5:
172501011-172501011
TGintronicDe novo--Trost2022 G
Yuen2017 G
CREBRF     REACH000754chr5:
172537644-172537644
ATexonicDe novononsynonymous SNVNM_153607c.A1537Tp.T513S29.0-Antaki2022 GE
Trost2022 G
Zhou2022 GE
CREBRF     1-0037-004chr5:
172522685-172522685
CTintronicDe novo--Trost2022 G
CREBRF     10-0008-003chr5:
172543872-172543872
TCintronicDe novo--Trost2022 G
CREBRF     SP0142696chr5:
172519148-172519148
TGUTR3De novo--Fu2022 E
CREBRF     MSSNG00355-003chr5:
172482805-172482805
CGupstreamDe novo--Trost2022 G
CREBRF     SSC09405chr5:
172513676-172513676
ACintronicDe novo--Trost2022 G
CREBRF     2-0145-004chr5:
172546180-172546180
AGintronicDe novo--Trost2022 G
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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