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Results for "FCGBP"

Variant Events: 13

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
FCGBP     336-06-106561chr19:
40433571-40433571
GAexonicDe novononsynonymous SNVNM_003890c.C698Tp.T233M12.14-Satterstrom2020 E
FCGBP     11572.p1chr19:
40419287-40419287
TCintronicDe novo--Turner2016 G
FCGBP     7-0197-003chr19:
40375645-40375645
GAintronicDe novo--Yuen2017 G
FCGBP     AU3875301chr19:
40365114-40365114
TGintronicDe novo--Yuen2017 G
FCGBP     AU4149301chr19:
40385658-40385658
CAintronicDe novo--Yuen2017 G
FCGBP     12759.p1chr19:
40408653-40408653
CTexonicDe novononsynonymous SNVNM_003890c.G4186Ap.D1396N7.9742.471E-5Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
FCGBP     2-1644-003chr19:
40433751-40433751
GAexonicDe novononsynonymous SNVNM_003890c.C518Tp.T173M1.792.479E-5Yuen2017 G
FCGBP     iHART2701chr19:
40424533-40424533
GAexonicDe novononsynonymous SNVNM_003890c.C1670Tp.S557L10.53-Ruzzo2019 G
FCGBP     iHART3300chr19:
40421406-40421406
GAexonicMaternalstopgainNM_003890c.C2515Tp.Q839X25.1-Ruzzo2019 G
FCGBP     09C80145chr19:
40363870-40363870
CTexonicDe novosynonymous SNVNM_003890c.G14772Ap.G4924G--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
FCGBP     iHART3240chr19:
40366331-40366331
GAexonicPaternalstopgainNM_003890c.C13903Tp.Q4635X53.0-Ruzzo2019 G
FCGBP     14168.p1chr19:
40376361-40376361
GCexonicDe novononsynonymous SNVNM_003890c.C11943Gp.C3981W12.25-Ji2016 E
Krumm2015 E
FCGBP     AU4197302chr19:
40368198-40368198
GAintronicDe 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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