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Results for "PAX7"

Variant Events: 16

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
PAX7     1-0153-004chr1:
19133017-19133017
AGintergenicDe novo--Yuen2017 G
PAX7     2-0297-004chr1:
19097208-19097208
GAintergenicDe novo--Yuen2017 G
PAX7     AU1795301chr1:
19157008-19157008
CTintergenicDe novo--Yuen2017 G
PAX7     AU2777302chr1:
18991623-18991623
GAintronicDe novo--Yuen2017 G
PAX7     AU2137304chr1:
19048067-19048067
GTintronicDe novo--Yuen2017 G
PAX7     SJD_34chr1:
18960904-18960904
CTexonicPaternalnonsynonymous SNVNM_001135254
NM_002584
NM_013945
c.C193T
c.C193T
c.C193T
p.H65Y
p.H65Y
p.H65Y
27.4-Toma2013 E
PAX7     1-0338-005chr1:
19147450-19147450
GGTCAGCintergenicDe novo--Yuen2017 G
PAX7     AU034903chr1:
19133559-19133559
GTintergenicDe novo--Yuen2017 G
PAX7     2-0033-003chr1:
19032189-19032195
GGGAAGTGintronicDe novo--Yuen2016 G
Yuen2017 G
PAX7     AU3794302chr1:
19000517-19000517
CTintronicDe novo--Yuen2017 G
PAX7     AU4394302chr1:
18998507-18998507
TCintronicDe novo--Yuen2017 G
PAX7     AU2437302chr1:
19032512-19032512
CTintronicDe novo--Yuen2017 G
PAX7     1-0338-003chr1:
19147450-19147450
GGTCAGCintergenicDe novo--Yuen2017 G
PAX7     AU4211304chr1:
18997212-18997212
CTintronicDe novo--Yuen2017 G
PAX7     200675402@1082034616chr1:
19071281-19071281
TGintronicDe novo--Satterstrom2020 E
PAX7     2-0307-003chr1:
19030254-19030254
ATintronicDe 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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