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Results for "C7orf57"

Variant Events: 8

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
C7orf57     2-1497-003chr7:
48086160-48086160
AGexonicDe novononsynonymous SNVNM_001267865
NM_001267866
NM_001100159
c.A88G
c.A88G
c.A454G
p.M30V
p.M30V
p.M152V
10.1-Yuen2017 G
C7orf57     AU051504chr7:
48090257-48090257
TCintronicDe novo--Yuen2017 G
C7orf57     08C78450chr7:
48092480-48092480
CTexonicDe novosynonymous SNVNM_001267865
NM_001267866
NM_001100159
c.C375T
c.C375T
c.C789T
p.L125L
p.L125L
p.L263L
-8.301E-6DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
C7orf57     1-0971-003chr7:
48099044-48099044
CTintronicDe novo--Yuen2017 G
C7orf57     iHART1956chr7:
48092445-48092445
CTexonicMaternalstopgainNM_001267865
NM_001267866
NM_001100159
c.C340T
c.C340T
c.C754T
p.R114X
p.R114X
p.R252X
34.03.0E-4Ruzzo2019 G
C7orf57     13650.p1chr7:
48089488-48089488
GAexonicDe novosynonymous SNVNM_001267865
NM_001267866
NM_001100159
c.G153A
c.G153A
c.G519A
p.P51P
p.P51P
p.P173P
-8.602E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
C7orf57     7-0106-003chr7:
48116283-48116283
CAintergenicDe novo--Yuen2017 G
C7orf57     Cukier2014:7936chr7:
48086151-48086151
GAexonicUnknownnonsynonymous SNVNM_001267865
NM_001267866
NM_001100159
c.G79A
c.G79A
c.G445A
p.D27N
p.D27N
p.D149N
17.670.0093Cukier2014 E
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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