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Results for "MTF2"

Variant Events: 7

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
MTF2     2-1487-003chr1:
93613638-93613638
TGintergenicDe novo--Yuen2017 G
MTF2     1-0450-003chr1:
93546099-93546099
GTintronicDe novo--Yuen2017 G
MTF2     Lim2017:68752chr1:
93580638-93580638
CTexonicDe novononsynonymous SNVNM_001164393
NM_001164392
NM_007358
NM_001164391
c.C170T
c.C476T
c.C476T
c.C170T
p.T57I
p.T159I
p.T159I
p.T57I
13.59-Lim2017 E
MTF2     2-1093-005chr1:
93550937-93550937
TCintronicDe novo--Yuen2017 G
MTF2     13371.p1chr1:
93580638-93580638
CTexonicMosaic, De novononsynonymous SNVNM_001164393
NM_001164392
NM_007358
NM_001164391
c.C170T
c.C476T
c.C476T
c.C170T
p.T57I
p.T159I
p.T159I
p.T57I
13.59-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
MTF2     AU15203chr1:
93602372-93602372
GAexonicDe novononsynonymous SNVNM_001164393
NM_001164392
NM_007358
NM_001164391
c.G1264A
c.G1399A
c.G1570A
c.G1264A
p.D422N
p.D467N
p.D524N
p.D422N
16.38-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
MTF2     7-0012-003chr1:
93586312-93586312
AGintronicDe novo--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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