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Results for "FGD5"
Variant Events: 12
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
AU3713302
chr3:
14959412-14959412
G
A
intronic
De novo
-
-
Yuen2017
G
FGD5
1-0651-003
chr3:
14948141-14948141
C
T
intronic
De novo
-
-
Yuen2017
G
FGD5
AU4168306
chr3:
14952546-14952546
G
A
intronic
De novo
-
-
Yuen2017
G
FGD5
11609.p1
chr3:
14860730-14860730
G
A
exonic
De novo
nonsynonymous SNV
NM_152536
c.G152A
p.R51Q
4.56
-
Krumm2015
E
FGD5
1-0382-003
chr3:
14871862-14871862
A
T
intronic
De novo
-
-
Yuen2017
G
FGD5
2-1128-003
chr3:
14862060-14862060
A
G
exonic
De novo
synonymous SNV
NM_152536
c.A1482G
p.P494P
-
-
Yuen2016
G
Yuen2017
G
FGD5
74-0765
chr3:
14862257-14862257
T
C
exonic
Inherited
nonsynonymous SNV
NM_152536
c.T1679C
p.V560A
6.31
8.571E-6
Patowary2019
E
FGD5
11979.p1
chr3:
14960293-14960293
C
T
exonic
Mosaic Mat.
synonymous SNV
NM_152536
c.C3522T
p.Y1174Y
-
2.0E-4
Dou2017
E
FGD5
08C75895
chr3:
14862060-14862060
A
G
exonic
De novo
synonymous SNV
NM_152536
c.A1482G
p.P494P
-
-
Fu2022
E
Satterstrom2020
E
FGD5
SP0033784
chr3:
14905722-14905722
G
A
exonic
De novo
synonymous SNV
NM_152536
c.G2613A
p.S871S
4.379
-
Fu2022
E
FGD5
SP0082954
chr3:
14862913-14862913
G
A
exonic
De novo
nonsynonymous SNV
NM_152536
c.G2335A
p.A779T
24.4
-
Fu2022
E
FGD5
1-0144-004
chr3:
14889802-14889802
C
T
intronic
De 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 notes
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