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Results for "SYNRG"

Variant Events: 6

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
SYNRG     AU4060306chr17:
35885004-35885004
GCintronicDe novo--Yuen2017 G
SYNRG     Lim2017:5426chr17:
35946557-35946557
TGexonicDe novononsynonymous SNVNM_001163544
NM_001163545
NM_001163546
NM_001163547
NM_007247
NM_080550
NM_198882
c.A341C
c.A338C
c.A341C
c.A341C
c.A341C
c.A341C
c.A341C
p.D114A
p.D113A
p.D114A
p.D114A
p.D114A
p.D114A
p.D114A
23.8-Lim2017 E
SYNRG     1-0699-003chr17:
35884993-35884993
GCintronicDe novo--Yuen2017 G
SYNRG     AU1952305chr17:
35878826-35878826
GAUTR3De novo--Yuen2017 G
SYNRG     1-0455-003chr17:
35945489-35945489
GAexonicDe novononsynonymous SNVNM_001163544
NM_001163545
NM_001163546
NM_001163547
NM_007247
NM_080550
NM_198882
c.C421T
c.C418T
c.C421T
c.C421T
c.C421T
c.C421T
c.C421T
p.R141C
p.R140C
p.R141C
p.R141C
p.R141C
p.R141C
p.R141C
21.91.651E-5Yuen2017 G
SYNRG     11599.p1chr17:
35946557-35946557
TGexonicDe novononsynonymous SNVNM_001163544
NM_001163545
NM_001163546
NM_001163547
NM_007247
NM_080550
NM_198882
c.A341C
c.A338C
c.A341C
c.A341C
c.A341C
c.A341C
c.A341C
p.D114A
p.D113A
p.D114A
p.D114A
p.D114A
p.D114A
p.D114A
23.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 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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