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Results for "SLC25A1"

Variant Events: 17

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
SLC25A1     74-0450chr22:
19165466-19165466
CGexonicInheritednonsynonymous SNVNM_001256534
NM_005984
c.G312C
c.G291C
p.K104N
p.K97N
22.0-Patowary2019 E
SLC25A1     SP0052416chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0035858chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     09C95484chr22:
19165288-19165288
AAGCexonicDe novoframeshift insertionNM_001256534
NM_001287387
NM_005984
c.413_414insGC
c.83_84insGC
c.392_393insGC
p.A138fs
p.A28fs
p.A131fs
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SLC25A1     MSSNG00399-003chr22:
19164689-19164689
GAexonicDe novononsynonymous SNVNM_001256534
NM_001287387
NM_005984
c.C491T
c.C161T
c.C470T
p.P164L
p.P54L
p.P157L
9.572-Trost2022 G
Zhou2022 GE
SLC25A1     SP0026358chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0008325chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0122472chr22:
19165963-19165963
GAUTR5De novo--Fu2022 E
Trost2022 G
SLC25A1     SP0046586chr22:
19164529-19164531
TGGTintronicDe novo--Fu2022 E
Trost2022 G
SLC25A1     SP0209892chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0050469chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0139542chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0131889chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0130703chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0120116chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0079197chr22:
19164487-19164487
TGintronicDe novo--Trost2022 G
SLC25A1     SP0052758chr22:
19164487-19164487
TGintronicDe novo--Trost2022 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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