Variant Results

or

or

Results for "PTGER3"

Variant Events: 24

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

PTGER3

1-0169-004

chr1:
71399239-71399239

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

1-0906-003

chr1:
71418663-71418663

T

C

exonic

De novo

nonsynonymous SNV

NM_198718

c.A1184G

p.N395S

0.999

-

Yuen2017 G
Zhou2022 GE

PTGER3

AU3857301

chr1:
71333058-71333058

G

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

7-0171-003

chr1:
71500519-71500519

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

7-0174-003

chr1:
71419224-71419224

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

3-0723-000

chr1:
71385989-71385989

T

C

intronic

De novo

-

-

Trost2022 G

PTGER3

5-0030-003

chr1:
71376633-71376635

TGT

CTCAC

intronic

De novo

-

-

Trost2022 G

PTGER3

6584

chr1:
71437373-71437373

A

T

UTR3

De novo

-

-

Trost2022 G

PTGER3

AU3760301

chr1:
71450685-71450685

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

PN400260

chr1:
71418661-71418662

TG

T

exonic

Unknown

frameshift deletion

NM_198718

c.1185delC

p.N395fs

-

Leblond2019 E

PTGER3

5-0049-003

chr1:
71397653-71397653

G

A

intronic

De novo

-

-

Trost2022 G

PTGER3

12501.p1

chr1:
71439935-71439935

C

CG

intronic

De novo

-

-

Dong2014 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PTGER3

14370.p1

chr1:
71488374-71488374

T

A

intronic

De novo

-

-

Turner2016 G

PTGER3

5-0030-003

chr1:
71376626-71376627

AT

GC

intronic

De novo

-

-

Trost2022 G

PTGER3

4-0096-003

chr1:
71346689-71346689

G

A

intronic

De novo

-

-

Trost2022 G

PTGER3

SP0107946

chr1:
71472217-71472217

G

T

UTR3

De novo

-

-

Fu2022 E

PTGER3

1-0385-003

chr1:
71431103-71431103

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

4-0037-004

chr1:
71449825-71449825

C

A

intronic

De novo

-

-

Trost2022 G

PTGER3

SSC04927

chr1:
71439935-71439935

C

CG

intronic

De novo

-

-

Trost2022 G

PTGER3

2-0007-003

chr1:
71408290-71408290

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

1-0291-003

chr1:
71511172-71511172

C

T

intronic

De novo

-

-

Trost2022 G

PTGER3

3-0360-000

chr1:
71496980-71496980

C

T

intronic

De novo

-

-

Trost2022 G

PTGER3

1-0882-003

chr1:
71474489-71474489

T

C

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

PTGER3

14292.p1

chr1:
71437373-71437373

A

T

UTR3

De novo

-

-

Satterstrom2020 E

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 notes	View
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