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Results for "SLC25A46"

Variant Events: 27

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
SLC25A46     1-0025-006chr5:
110074987-110074987
ACexonicDe novononsynonymous SNVNM_001303249
NM_138773
c.A167C
c.A167C
p.H56P
p.H56P
29.2-Yuen2015 G
Yuen2017 G
SLC25A46     2-1176-003chr5:
110171433-110171433
GAintergenicDe novo--Yuen2017 G
SLC25A46     1-0673-003chr5:
110282017-110282017
TCintergenicDe novo--Yuen2017 G
SLC25A46     1-0555-003chr5:
110135277-110135277
TCintergenicDe novo--Yuen2017 G
SLC25A46     5-0004-003chr5:
110096821-110096821
TCintronicDe novo--Yuen2017 G
SLC25A46     1-0668-003chr5:
110238476-110238476
AGintergenicDe novo--Yuen2017 G
SLC25A46     2-1369-003chr5:
110177760-110177760
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SLC25A46     1-0597-003chr5:
110073811-110073811
CAupstreamDe novo--Yuen2017 G
SLC25A46     1-0914-003chr5:
110307758-110307758
CGintergenicDe novo--Yuen2017 G
SLC25A46     2-1184-003chr5:
110237022-110237026
TAGAATintergenicDe novo--Yuen2016 G
SLC25A46     2-1357-003chr5:
110083921-110083921
CTexonicDe novononsynonymous SNVNM_001303249
NM_001303250
NM_138773
c.C520T
c.C247T
c.C520T
p.L174F
p.L83F
p.L174F
20.1-Yuen2015 G
Yuen2017 G
SLC25A46     1-0965-003chr5:
110283471-110283471
CTintergenicDe novo--Yuen2017 G
SLC25A46     2-0002-005chr5:
110324718-110324718
CGintergenicDe novo--Yuen2017 G
SLC25A46     AU3858302chr5:
110336160-110336160
CTintergenicDe novo--Yuen2017 G
SLC25A46     2-1375-003chr5:
110323690-110323690
CGintergenicDe novo--Yuen2017 G
SLC25A46     AU3175302chr5:
110153452-110153452
TCintergenicDe novo--Yuen2017 G
SLC25A46     1-0346-004chr5:
110121953-110121953
TCintergenicDe novo--Yuen2017 G
SLC25A46     7-0103-003chr5:
110082956-110082956
GAintronicDe novo--Yuen2017 G
SLC25A46     AU2793302chr5:
110348673-110348673
AATintergenicDe novo--Yuen2017 G
SLC25A46     08C76155chr5:
110083890-110083890
GAexonicDe novononsynonymous SNVNM_001303249
NM_001303250
NM_138773
c.G489A
c.G216A
c.G489A
p.M163I
p.M72I
p.M163I
16.5-Satterstrom2020 E
SLC25A46     AU3808304chr5:
110081210-110081210
TCintronicDe novo--Yuen2017 G
SLC25A46     7-0197-003chr5:
110165617-110165617
GTintergenicDe novo--Yuen2017 G
SLC25A46     5-0042-003chr5:
110256250-110256250
AGintergenicDe novo--Yuen2017 G
SLC25A46     2-1127-003chr5:
110273845-110273845
GAintergenicDe novo--Yuen2017 G
SLC25A46     AU2137304chr5:
110315539-110315539
CGintergenicDe novo--Yuen2017 G
SLC25A46     AU4410302chr5:
110229501-110229501
GAintergenicDe novo--Yuen2017 G
SLC25A46     1-0439-003chr5:
110271422-110271422
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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