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Results for "TMEM178B"

Variant Events: 17

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
TMEM178B     2-1005-003chr7:
141177653-141177654
TATUTR3De novo--Yuen2017 G
TMEM178B     AU2410301chr7:
141027479-141027490
GGACTTTCAAGAGGAintronicDe novo--Yuen2017 G
TMEM178B     1-0632-003chr7:
140837265-140837265
GAintronicDe novo--Yuen2017 G
TMEM178B     2-0110-003chr7:
141074698-141074698
AGintronicDe novo--Yuen2016 G
Yuen2017 G
TMEM178B     2-1264-003chr7:
140942452-140942452
CTintronicDe novo--Yuen2016 G
Yuen2017 G
TMEM178B     AU2292301chr7:
140917222-140917222
TCintronicDe novo--Yuen2017 G
TMEM178B     AU2292302chr7:
140917222-140917222
TCintronicDe novo--Yuen2017 G
TMEM178B     2-0102-003chr7:
140964914-140964914
AGintronicDe novo--Yuen2017 G
TMEM178B     2-0198-003chr7:
141196031-141196031
CTintergenicDe novo--Yuen2017 G
TMEM178B     AU060004chr7:
140891025-140891025
CGintronicDe novo--Yuen2017 G
TMEM178B     AU2129303chr7:
140912382-140912382
CGintronicDe novo--Yuen2017 G
TMEM178B     AU4336301chr7:
140918603-140918603
CTintronicDe novo--Yuen2017 G
TMEM178B     2-0019-004chr7:
141208169-141208169
AGintergenicDe novo--Yuen2017 G
TMEM178B     13298.p1chr7:
141001771-141001771
GAintronicDe novo--Turner2016 G
TMEM178B     2-1428-003chr7:
140785199-140785199
GAintronicDe novo--Yuen2017 G
TMEM178B     AU4007302chr7:
141122677-141122677
AGintronicDe novo--Yuen2017 G
TMEM178B     2-1702-004chr7:
140834431-140834431
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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