Variant Results

or

Results for "PTGR1"

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

PTGR1

5421

chr9:
114341206-114341206

C

T

exonic

De novo

nonsynonymous SNV

NM_001146108
NM_001146109
NM_012212

c.G521A
c.G521A
c.G521A

p.G174E
p.G174E
p.G174E

16.61

-

Fu2022 E
Trost2022 G

PTGR1

MSSNG00420-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G
Trost2022 G
Trost2022 G

PTGR1

REACH000400

chr9:
114324932-114324932

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G

PTGR1

SSC09139

chr9:
114355235-114355235

A

C

exonic

De novo

synonymous SNV

NM_001146108
NM_001146109
NM_012212

c.T180G
c.T180G
c.T180G

p.G60G
p.G60G
p.G60G

-

Fu2022 E

PTGR1

Lim2017:5421

chr9:
114341206-114341206

C

T

exonic

De novo

nonsynonymous SNV

NM_001146108
NM_001146109
NM_012212

c.G521A
c.G521A
c.G521A

p.G174E
p.G174E
p.G174E

16.61

-

Lim2017 E

PTGR1

11526.p1

chr9:
114341206-114341206

C

T

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001146108
NM_001146109
NM_012212

c.G521A
c.G521A
c.G521A

p.G174E
p.G174E
p.G174E

16.61

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PTGR1

AU2410301

chr9:
114323047-114323047

C

A

intronic

De novo

-

Yuen2017 G

PTGR1

1-0455-004

chr9:
114333584-114333585

CA

TG

intronic

De novo

-

Trost2022 G

PTGR1

MSSNG00183-003

chr9:
114355812-114355812

A

G

intronic

De novo

-

Trost2022 G

PTGR1

7-0405-004

chr9:
114325214-114325214

G

A

intronic

De novo

-

Trost2022 G
Trost2022 G

PTGR1

1-0455-004

chr9:
114333569-114333569

G

A

intronic

De novo

-

Trost2022 G

PTGR1

2-1093-009

chr9:
114313774-114313774

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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