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Results for "GNE"

Variant Events: 10

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
GNE     14153.p1chr9:
36216623-36216623
CTUTR3De novo--Turner2016 G
GNE     1-0153-005chr9:
36307816-36307816
GAintergenicDe novo--Yuen2017 G
GNE     3-0140-000chr9:
36262649-36262649
AGintronicDe novo--Yuen2017 G
GNE     200675689@1082034232chr9:
36246115-36246115
GAexonicDe novononsynonymous SNVNM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476
c.C352T
c.C514T
c.C622T
c.C529T
c.C529T
p.R118C
p.R172C
p.R208C
p.R177C
p.R177C
20.82.471E-5Satterstrom2020 E
GNE     AU4463303chr9:
36248312-36248312
TCintronicDe novo--Yuen2017 G
GNE     2-1417-003chr9:
36265144-36265144
GTintronicDe novo--Yuen2017 G
GNE     SP0019306chr9:
36218241-36218241
CTexonicDe novosynonymous SNVNM_001190384
NM_001190383
NM_001190388
NM_001128227
NM_005476
c.G1542A
c.G1650A
c.G1857A
c.G1965A
c.G1872A
p.A514A
p.A550A
p.A619A
p.A655A
p.A624A
-0.0015Feliciano2019 E
GNE     1-0285-003chr9:
36221129-36221129
CAintronicDe novo--Yuen2017 G
GNE     Chen2017:108chr9:
36246115-36246115
GAexonicDe novononsynonymous SNVNM_001190384
NM_001190388
NM_001128227
NM_001190383
NM_005476
c.C352T
c.C514T
c.C622T
c.C529T
c.C529T
p.R118C
p.R172C
p.R208C
p.R177C
p.R177C
20.82.471E-5Chen2017 E
GNE     AU4093304chr9:
36319270-36319270
GAintergenicDe 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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