Variant Results

or

or

Results for "QTRT2"

Variant Events: 12

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

QTRT2

5020

chr3:
113784140-113784140

T

G

exonic

De novo

nonsynonymous SNV

NM_001256835
NM_024638

c.T72G
c.T36G

p.C24W
p.C12W

17.49

Trost2022 G

QTRT2

2-0160-003

chr3:
113791501-113791501

T

C

intronic

De novo

-

-

Trost2022 G

QTRT2

1-1206-003

chr3:
113777058-113777058

T

G

intronic

De novo

-

-

Trost2022 G

QTRT2

AU050603

chr3:
113840015-113840015

G

C

intergenic

De novo

-

-

Yuen2017 G

QTRT2

11414.p1

chr3:
113784140-113784140

T

G

exonic

De novo

nonsynonymous SNV

NM_001256835
NM_024638

c.T72G
c.T36G

p.C24W
p.C12W

17.49

Satterstrom2020 E

QTRT2

14527.p1

chr3:
113795683-113795683

G

A

exonic

De novo

nonsynonymous SNV

NM_001256836
NM_001256837
NM_001256835
NM_024638

c.G322A
c.G271A
c.G676A
c.G640A

p.V108M
p.V91M
p.V226M
p.V214M

27.4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

QTRT2

AU056204

chr3:
113842265-113842265

C

G

intergenic

De novo

-

-

Yuen2017 G

QTRT2

36791

chr3:
113795683-113795683

G

A

exonic

De novo

nonsynonymous SNV

NM_001256836
NM_001256837
NM_001256835
NM_024638

c.G322A
c.G271A
c.G676A
c.G640A

p.V108M
p.V91M
p.V226M
p.V214M

27.4

Fu2022 E
Trost2022 G

QTRT2

Lim2017:36791

chr3:
113795683-113795683

G

A

exonic

De novo

nonsynonymous SNV

NM_001256836
NM_001256837
NM_001256835
NM_024638

c.G322A
c.G271A
c.G676A
c.G640A

p.V108M
p.V91M
p.V226M
p.V214M

27.4

Lim2017 E

QTRT2

2-1526-003

chr3:
113785668-113785668

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

QTRT2

111304

chr3:
113795699-113795699

T

C

exonic

nonsynonymous SNV

NM_001256836
NM_001256837
NM_001256835
NM_024638

c.T338C
c.T287C
c.T692C
c.T656C

p.L113P
p.L96P
p.L231P
p.L219P

27.3

Woodbury-Smith2022 E

QTRT2

2-1427-003

chr3:
113782987-113782987

G

A

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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