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Results for "SETD7"

Variant Events: 14

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
SETD7     1-0232-004chr4:
140492977-140492977
TCintergenicDe novo--Yuen2017 G
SETD7     7-0097-003chr4:
140423407-140423407
GAintronicDe novo--Yuen2017 G
SETD7     1-0285-004chr4:
140504053-140504053
CAintergenicDe novo--Yuen2017 G
SETD7     1-0465-003achr4:
140576663-140576663
ACintergenicDe novo--Yuen2017 G
SETD7     2-1427-003chr4:
140539163-140539163
TGintergenicDe novo--Yuen2017 G
SETD7     7-0080-003chr4:
140452545-140452545
TCintronicDe novo--Yuen2017 G
SETD7     27.s1chr4:
140428120-140428120
GAUTR3De novo--An2014 E
SETD7     1-0465-003chr4:
140576663-140576663
ACintergenicDe novo--Yuen2017 G
SETD7     AU0780302chr4:
140566928-140566928
CAintergenicDe novo--Yuen2017 G
SETD7     13191.p1chr4:
140558572-140558572
CCAAAintergenicDe novo--Werling2018 G
SETD7     2-1184-003chr4:
140426962-140426962
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SETD7     AU2109301chr4:
140472063-140472063
TCintronicDe novo--Yuen2017 G
SETD7     DEASD_1020_001chr4:
140454347-140454347
CTexonicDe novononsynonymous SNVNM_001306199
NM_001306200
NM_030648
c.G344A
c.G344A
c.G344A
p.R115H
p.R115H
p.R115H
34.03.296E-5Satterstrom2020 E
SETD7     1-0674-003chr4:
140487933-140487933
AGintergenicDe 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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