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Results for "TMEM243"

Variant Events: 13

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
TMEM243     1-0150-003chr7:
86951126-86951126
CGintergenicDe novo--Yuen2017 G
TMEM243     2-1605-003chr7:
86951126-86951126
CGintergenicDe novo--Yuen2017 G
TMEM243     2-1299-003chr7:
86951126-86951126
CGintergenicDe novo--Yuen2017 G
TMEM243     2-1480-003chr7:
86895451-86895451
AGintergenicDe novo--Yuen2016 G
TMEM243     1-0567-003chr7:
86951126-86951126
CGintergenicDe novo--Yuen2017 G
TMEM243     1-0559-005chr7:
86951085-86951085
GAintergenicDe novo--Yuen2017 G
TMEM243     7-0058-003chr7:
86826548-86826548
CCAAintronicDe novo--Yuen2017 G
TMEM243     AU024104chr7:
86882478-86882478
AGintergenicDe novo--Yuen2017 G
TMEM243     Cukier2014:37037chr7:
86827302-86827302
GTexonicUnknownnonsynonymous SNVNM_024315c.C189Ap.F63L24.90.0034Cukier2014 E
TMEM243     12224.p1chr7:
86848862-86848862
CGUTR5De novo--Satterstrom2020 E
TMEM243     1-0153-005chr7:
86951178-86951178
TCintergenicDe novo--Yuen2017 G
TMEM243     AU030703chr7:
86872196-86872196
AGintergenicDe novo--Yuen2017 G
TMEM243     2-1266-003chr7:
86894096-86894096
AGintergenicDe 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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