Variant Results

or

Results for "SLC25A46"

Variant Events: 28

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

1-0025-006

chr5:
110074987-110074987

A

C

exonic

De novo

nonsynonymous SNV

NM_001303249
NM_138773

c.A167C
c.A167C

p.H56P
p.H56P

29.2

-

Yuen2015 G
Yuen2017 G

SLC25A46

2-1176-003

chr5:
110171433-110171433

G

A

intergenic

De novo

-

Yuen2017 G

SLC25A46

1-0673-003

chr5:
110282017-110282017

T

C

intergenic

De novo

-

Yuen2017 G

SLC25A46

1-0555-003

chr5:
110135277-110135277

T

C

intergenic

De novo

-

Yuen2017 G

SLC25A46

5-0004-003

chr5:
110096821-110096821

T

C

intronic

De novo

-

Yuen2017 G

SLC25A46

1-0668-003

chr5:
110238476-110238476

A

G

intergenic

De novo

-

Yuen2017 G

SLC25A46

2-1369-003

chr5:
110177760-110177760

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SLC25A46

1-0597-003

chr5:
110073811-110073811

C

A

upstream

De novo

-

Yuen2017 G

SLC25A46

1-0914-003

chr5:
110307758-110307758

C

G

intergenic

De novo

-

Yuen2017 G

SLC25A46

2-1184-003

chr5:
110237022-110237026

TAGAA

T

intergenic

De novo

-

Yuen2016 G

SLC25A46

2-1357-003

chr5:
110083921-110083921

C

T

exonic

De novo

nonsynonymous SNV

NM_001303249
NM_001303250
NM_138773

c.C520T
c.C247T
c.C520T

p.L174F
p.L83F
p.L174F

20.1

-

Yuen2015 G
Yuen2017 G

SLC25A46

1-0965-003

chr5:
110283471-110283471

C

T

intergenic

De novo

-

Yuen2017 G

SLC25A46

2-0002-005

chr5:
110324718-110324718

C

G

intergenic

De novo

-

Yuen2017 G

SLC25A46

AU3858302

chr5:
110336160-110336160

C

T

intergenic

De novo

-

Yuen2017 G

SLC25A46

08C74272

chr5:
110097028-110097028

C

T

exonic

De novo

nonsynonymous SNV

NM_001303250
NM_138773

c.C530T
c.C803T

p.T177M
p.T268M

24.2

8.245E-6

Fu2022 E

SLC25A46

2-1375-003

chr5:
110323690-110323690

C

G

intergenic

De novo

-

Yuen2017 G

SLC25A46

AU3175302

chr5:
110153452-110153452

T

C

intergenic

De novo

-

Yuen2017 G

SLC25A46

1-0346-004

chr5:
110121953-110121953

T

C

intergenic

De novo

-

Yuen2017 G

SLC25A46

7-0103-003

chr5:
110082956-110082956

G

A

intronic

De novo

-

Yuen2017 G

SLC25A46

AU2793302

chr5:
110348673-110348673

A

AT

intergenic

De novo

-

Yuen2017 G

SLC25A46

08C76155

chr5:
110083890-110083890

G

A

exonic

De novo

nonsynonymous SNV

NM_001303249
NM_001303250
NM_138773

c.G489A
c.G216A
c.G489A

p.M163I
p.M72I
p.M163I

16.5

-

Fu2022 E
Satterstrom2020 E

SLC25A46

AU3808304

chr5:
110081210-110081210

T

C

intronic

De novo

-

Yuen2017 G

SLC25A46

7-0197-003

chr5:
110165617-110165617

G

T

intergenic

De novo

-

Yuen2017 G

SLC25A46

5-0042-003

chr5:
110256250-110256250

A

G

intergenic

De novo

-

Yuen2017 G

SLC25A46

2-1127-003

chr5:
110273845-110273845

G

A

intergenic

De novo

-

Yuen2017 G

SLC25A46

AU2137304

chr5:
110315539-110315539

C

G

intergenic

De novo

-

Yuen2017 G

SLC25A46

AU4410302

chr5:
110229501-110229501

G

A

intergenic

De novo

-

Yuen2017 G

SLC25A46

1-0439-003

chr5:
110271422-110271422

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

Source Variant Information

, -

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 notes	View
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