Variant Results

or

Results for "POLQ"

Variant Events: 14

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

POLQ

AU2000302

chr3:
121172384-121172384

G

T

intronic

De novo

-

Yuen2017 G

POLQ

1-0367-003

chr3:
121266133-121266133

G

A

intergenic

De novo

-

Yuen2017 G

POLQ

1-0459-003

chr3:
121166121-121166121

G

A

intronic

De novo

-

Yuen2017 G

POLQ

AU4033304

chr3:
121180566-121180566

A

G

intronic

De novo

-

Yuen2017 G

POLQ

SSC06885

chr3:
121209103-121209103

A

G

exonic

De novo

nonsynonymous SNV

NM_199420

c.T2675C

p.V892A

14.23

-

Lim2017 E

POLQ

iHART1748

chr3:
121230748-121230748

G

A

exonic

Paternal

stopgain

NM_199420

c.C1597T

p.R533X

39.0

5.769E-5

Ruzzo2019 G

POLQ

Lim2017:5311

chr3:
121208072-121208072

T

A

exonic

De novo

nonsynonymous SNV

NM_199420

c.A3706T

p.N1236Y

6.928

-

Lim2017 E

POLQ

iHART1747

chr3:
121230748-121230748

G

A

exonic

Paternal

stopgain

NM_199420

c.C1597T

p.R533X

39.0

5.769E-5

Ruzzo2019 G

POLQ

1-0203-004

chr3:
121167528-121167528

A

C

intronic

De novo

-

Yuen2017 G

POLQ

11043.p1

chr3:
121208072-121208072

T

A

exonic

De novo

nonsynonymous SNV

NM_199420

c.A3706T

p.N1236Y

6.928

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G

POLQ

iHART2635

chr3:
121203919-121203919

A

C

exonic

Paternal

stopgain

NM_199420

c.T5742G

p.Y1914X

46.0

-

Ruzzo2019 G

POLQ

13256.p1

chr3:
121209103-121209103

A

G

exonic

De novo

nonsynonymous SNV

NM_199420

c.T2675C

p.V892A

14.23

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

POLQ

NDAR_INVCD337RRG_wes1

chr3:
121212507-121212507

T

C

exonic

De novo

synonymous SNV

NM_199420

c.A2340G

p.Q780Q

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

POLQ

AU3302302

chr3:
121255029-121255029

G

A

intronic

De novo

-

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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