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Results for "TMEM178A"

Variant Events: 7

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
TMEM178A     5-0148-003chr2:
39915154-39915154
CGintronicDe novo--Yuen2017 G
TMEM178A     13152.p1chr2:
39944209-39944209
CTexonicMosaic, De novononsynonymous SNVNM_001167959
NM_152390
c.C166T
c.C712T
p.R56W
p.R238W
18.64-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
TMEM178A     AU073005chr2:
39953526-39953526
CAintergenicDe novo--Yuen2017 G
TMEM178A     12795.p1chr2:
39908501-39908501
GAintronicDe novo--Turner2016 G
TMEM178A     SSC06613chr2:
39944209-39944209
CTexonicDe novononsynonymous SNVNM_001167959
NM_152390
c.C166T
c.C712T
p.R56W
p.R238W
18.64-Lim2017 E
TMEM178A     AU073005chr2:
39953505-39953505
CAintergenicDe novo--Yuen2017 G
TMEM178A     08C73610chr2:
39893296-39893296
CAexonicDe novononsynonymous SNVNM_152390c.C182Ap.P61Q23.0-Satterstrom2020 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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