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Results for "FGD5"

Variant Events: 10

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
FGD5     AU3713302chr3:
14959412-14959412
GAintronicDe novo--Yuen2017 G
FGD5     1-0651-003chr3:
14948141-14948141
CTintronicDe novo--Yuen2017 G
FGD5     AU4168306chr3:
14952546-14952546
GAintronicDe novo--Yuen2017 G
FGD5     11609.p1chr3:
14860730-14860730
GAexonicDe novononsynonymous SNVNM_152536c.G152Ap.R51Q4.56-Krumm2015 E
FGD5     1-0382-003chr3:
14871862-14871862
ATintronicDe novo--Yuen2017 G
FGD5     2-1128-003chr3:
14862060-14862060
AGexonicDe novosynonymous SNVNM_152536c.A1482Gp.P494P--Yuen2016 G
Yuen2017 G
FGD5     74-0765chr3:
14862257-14862257
TCexonicInheritednonsynonymous SNVNM_152536c.T1679Cp.V560A6.318.571E-6Patowary2019 E
FGD5     11979.p1chr3:
14960293-14960293
CTexonicMosaic Mat.synonymous SNVNM_152536c.C3522Tp.Y1174Y-2.0E-4Dou2017 E
FGD5     1-0144-004chr3:
14889802-14889802
CTintronicDe novo--Yuen2017 G
FGD5     08C75895chr3:
14862060-14862060
AGexonicDe novosynonymous SNVNM_152536c.A1482Gp.P494P--Satterstrom2020 E
Source Variant Information

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Source:

Paper alias:

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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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