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Results for "SLC25A13"

Variant Events: 22

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
SLC25A13     AU4433301chr7:
95862727-95862727
TCintronicDe novo--Yuen2017 G
SLC25A13     3-0392-000chr7:
95995483-95995483
GAintergenicDe novo--Yuen2016 G
SLC25A13     2-0318-003chr7:
96051095-96051095
GTintergenicDe novo--Yuen2017 G
SLC25A13     7-0149-003chr7:
95774933-95774933
ACintronicDe novo--Yuen2017 G
SLC25A13     1-0541-004chr7:
95814370-95814370
AGintronicDe novo--Yuen2017 G
SLC25A13     7-0002-003chr7:
95856090-95856090
CAintronicDe novo--Yuen2017 G
SLC25A13     AU4359301chr7:
95907476-95907476
GAintronicDe novo--Yuen2017 G
SLC25A13     SSC07443chr7:
95750561-95750561
TGexonicDe novononsynonymous SNVNM_001160210
NM_014251
c.A1973C
c.A1970C
p.Y658S
p.Y657S
13.63.297E-5Lim2017 E
SLC25A13     AU036203chr7:
95754899-95754899
GTintronicDe novo--Yuen2017 G
SLC25A13     2-1210-003chr7:
95787496-95787496
TGintronicDe novo--Yuen2017 G
SLC25A13     14534.p1chr7:
95750994-95750994
CTexonicMosaic Mat.nonsynonymous SNVNM_001160210
NM_014251
c.G1817A
c.G1814A
p.R606Q
p.R605Q
17.51.0E-4Dou2017 E
SLC25A13     1-0244-003chr7:
95818694-95818694
TCintronicDe novo-1.0E-4Yuen2016 G
Yuen2017 G
SLC25A13     1-0820-003chr7:
96004717-96004717
CTintergenicDe novo--Yuen2017 G
SLC25A13     AU072504chr7:
95752542-95752542
TCintronicDe novo--Yuen2017 G
SLC25A13     2-0102-004chr7:
95804135-95804135
GTintronicDe novo--Yuen2017 G
SLC25A13     08C76509chr7:
95818694-95818694
TCintronicDe novo-1.0E-4Fu2022 E
Satterstrom2020 E
SLC25A13     AU4007301chr7:
95882636-95882636
AGintronicDe novo--Yuen2017 G
SLC25A13     AU4356302chr7:
95825527-95825527
CTintronicDe novo--Yuen2017 G
SLC25A13     AU4356302chr7:
95829973-95829973
CTintronicDe novo--Yuen2017 G
SLC25A13     Chen2021:31chr7:
95951267-95951267
AGexonicBoth parentsnonsynonymous SNVNM_001160210
NM_014251
c.T2C
c.T2C
p.M1T
p.M1T
10.010.0012Chen2021 GET
SLC25A13     2-1300-003chr7:
95872522-95872522
CAintronicDe novo--Yuen2017 G
SLC25A13     A29chr7:
95755915-95755915
ACintronicDe novo--Wu2018 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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