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Results for "MFN1"

Variant Events: 16

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
MFN1     SMHC01557sfd0chr3:
179082949-179082949
CTexonicDe novononsynonymous SNVNM_033540c.C689Tp.P230L22.2-Yuan2023 E
MFN1     13250.p1chr3:
179096450-179096450
ATexonicMosaic, De novononsynonymous SNVNM_033540c.A1510Tp.S504C17.23-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
MFN1     13204.p1chr3:
179107776-179107776
AGintronicDe novo-6.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
MFN1     1-0497-003chr3:
179075328-179075328
CAintronicDe novo--Trost2022 G
Yuen2017 G
MFN1     1-0289-004chr3:
179068771-179068771
TCintronicDe novo--Trost2022 G
Yuen2017 G
MFN1     11412.p1chr3:
179092998-179092998
CGintronicDe novo-2.0E-4Satterstrom2020 E
MFN1     AC05-0059-01chr3:
179104422-179104422
GTintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
MFN1     2-1094-005chr3:
179084818-179084818
CTintronicDe novo--Trost2022 G
Yuen2017 G
MFN1     1-0045-003chr3:
179102494-179102494
AGintronicDe novo--Trost2022 G
Yuen2017 G
MFN1     2-1481-003chr3:
179076001-179076001
CTintronicDe novo--Trost2022 G
MFN1     SSC00625chr3:
179092998-179092998
CGintronicDe novo-2.0E-4Trost2022 G
MFN1     1-0469-003chr3:
179094020-179094020
TAintronicDe novo--Trost2022 G
Yuen2017 G
MFN1     SP0052047chr3:
179082949-179082949
CTexonicDe novononsynonymous SNVNM_033540c.C689Tp.P230L22.2-Trost2022 G
Zhou2022 GE
MFN1     AU2299301chr3:
179072104-179072104
CTintronicDe novo--Trost2022 G
MFN1     9480-1chr3:
179096704-179096704
GAintronicDe novo--Fu2022 E
MFN1     2-1718-003chr3:
179075260-179075260
GAintronicDe novo--Trost2022 G
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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