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Results for "GMEB1"

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
GMEB1     14465.p1chr1:
29016661-29016661
AGexonicDe novosynonymous SNVNM_006582
NM_024482
c.A204G
c.A174G
p.V68V
p.V58V
--Krumm2015 E
Satterstrom2020 E
GMEB1     AU3918301chr1:
29027157-29027157
ATintronicDe novo--Yuen2017 G
GMEB1     SSC11965chr1:
29016661-29016661
AGexonicDe novosynonymous SNVNM_006582
NM_024482
c.A204G
c.A174G
p.V68V
p.V58V
--Lim2017 E
GMEB1     AU024606chr1:
29058410-29058410
TCintergenicDe novo--Yuen2017 G
GMEB1     7-0253-005chr1:
29024156-29024156
CGintronicDe novo--Yuen2017 G
GMEB1     1-0303-003chr1:
29009001-29009001
CTintronicDe novo--Yuen2017 G
GMEB1     AU3397302chr1:
29050855-29050855
CAintergenicDe novo--Yuen2017 G
GMEB1     2-1252-003chr1:
29013467-29013467
GAintronicDe novo--Yuen2017 G
GMEB1     AU3702307chr1:
29017497-29017497
ATintronicDe novo--Yuen2017 G
GMEB1     AU4015302chr1:
29027298-29027298
AGintronicDe 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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