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Results for "TMEM215"

Variant Events: 11

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
TMEM215     AU2293301chr9:
32913557-32913557
TAintergenicDe novo--Yuen2017 G
TMEM215     1-0330-004chr9:
32930862-32930862
CTintergenicDe novo--Yuen2017 G
TMEM215     2-1359-003chr9:
32967545-32967545
CTintergenicDe novo--Yuen2017 G
TMEM215     2-1212-003chr9:
32835747-32835747
CGintergenicDe novo--Yuen2017 G
TMEM215     2-0310-003chr9:
32941249-32941249
AGintergenicDe novo--Yuen2017 G
TMEM215     1-0092-003chr9:
32896235-32896235
AGintergenicDe novo--Yuen2017 G
TMEM215     2-1365-003chr9:
32937565-32937565
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
TMEM215     1-0344-003chr9:
32959544-32959544
CCAGAGintergenicDe novo--Yuen2017 G
TMEM215     AU4093304chr9:
32814506-32814506
GAintergenicDe novo--Yuen2017 G
TMEM215     AU2293302chr9:
32913557-32913557
TAintergenicDe novo--Yuen2017 G
TMEM215     2-1152-003chr9:
32793514-32793514
AGintergenicDe novo--Yuen2016 G
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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