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Results for "FGGY"

Variant Events: 19

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
FGGY     A22chr1:
59763665-59763665
AGintronicDe novo--Wu2018 G
FGGY     11216.p1chr1:
59787330-59787330
GTexonicDe novononsynonymous SNVNM_001113411
NM_001244714
NM_018291
c.G109T
c.G109T
c.G109T
p.A37S
p.A37S
p.A37S
22.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
FGGY     5-0095-003chr1:
59838057-59838057
ACintronicDe novo--Yuen2017 G
FGGY     A29chr1:
59936527-59936527
TCintronicDe novo--Wu2018 G
FGGY     AU3913302chr1:
59875627-59875627
GAintronicDe novo--Yuen2017 G
FGGY     AU3517302chr1:
60136524-60136524
TGintronicDe novo--Yuen2017 G
FGGY     iHART1168chr1:
59811957-59811957
CTexonicMaternalstopgainNM_001113411
NM_018291
c.C352T
c.C352T
p.R118X
p.R118X
17.932.476E-5Ruzzo2019 G
FGGY     11387.p1chr1:
60106970-60106970
TGexonicMosaicnonsynonymous SNVNM_001113411c.T1240Gp.Y414D2.888-Krupp2017 E
FGGY     1-0439-003chr1:
59796731-59796731
TGintronicDe novo--Yuen2017 G
FGGY     12493.p1chr1:
59763759-59763759
TGintronicDe novo--Turner2016 G
FGGY     1-0590-003chr1:
59837334-59837334
GAintronicDe novo--Yuen2017 G
FGGY     1-0448-003chr1:
59981190-59981190
CTintronicDe novo--Yuen2017 G
FGGY     12795.p1chr1:
59892531-59892531
ACintronicDe novo--Turner2016 G
FGGY     1-0627-003chr1:
59814510-59814514
CAGAGCAGintronicDe novo--Yuen2017 G
FGGY     2-1163-003chr1:
59797882-59797882
CTintronicDe novo--Yuen2016 G
Yuen2017 G
FGGY     2-0305-003chr1:
59888413-59888413
AGintronicDe novo--Yuen2017 G
FGGY     2-1526-004chr1:
59844483-59844483
GTexonicDe novosynonymous SNVNM_001244714
NM_001113411
NM_018291
c.G264T
c.G528T
c.G528T
p.S88S
p.S176S
p.S176S
--Yuen2017 G
FGGY     2-1166-003chr1:
60081949-60081949
CTintronicDe novo--Yuen2017 G
FGGY     AU4284301chr1:
59785837-59785837
AGintronicDe 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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