Variant Results

or

Results for "MTF2"

Variant Events: 11

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

SP0158028

chr1:
93594855-93594859

TAAAG

T

exonic

De novo

frameshift deletion

NM_001164393
NM_007358
NM_001164391

c.705_708del
c.1011_1014del
c.705_708del

p.I235fs
p.I337fs
p.I235fs

-

Trost2022 G

MTF2

68752

chr1:
93580638-93580638

C

T

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E
Trost2022 G

MTF2

4-0047-003

chr1:
93563127-93563127

C

T

intronic

De novo

-

Trost2022 G

MTF2

AU15203

chr1:
93602372-93602372

G

A

exonic

De novo

nonsynonymous SNV

NM_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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MTF2

2-1487-003

chr1:
93613638-93613638

T

G

intergenic

De novo

-

Yuen2017 G

MTF2

1-0450-003

chr1:
93546099-93546099

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTF2

Lim2017:68752

chr1:
93580638-93580638

C

T

exonic

De novo

nonsynonymous SNV

NM_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

2-1093-005

chr1:
93550937-93550937

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

MTF2

13371.p1

chr1:
93580638-93580638

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_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
Zhou2022 GE

MTF2

SP0034827

chr1:
93581140-93581140

C

T

exonic

De novo

synonymous SNV

NM_001164393
NM_001164392
NM_007358
NM_001164391

c.C291T
c.C597T
c.C597T
c.C291T

p.V97V
p.V199V
p.V199V
p.V97V

-

Fu2022 E
Trost2022 G
Zhou2022 GE

MTF2

7-0012-003

chr1:
93586312-93586312

A

G

intronic

De novo

-

Trost2022 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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