Variant Results

or

Results for "PTH2R"

Variant Events: 67

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

PTH2R

1-0289-004

chr2:
209331113-209331113

A

G

intronic

De novo

-

Yuen2017 G

PTH2R

1-0138-004

chr2:
209426667-209426667

A

G

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0482-003

chr2:
210246102-210246102

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PTH2R

AU4197301

chr2:
209610064-209610064

A

G

intergenic

De novo

-

Yuen2017 G

PTH2R

2-0198-005

chr2:
209587444-209587444

C

A

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0263-003

chr2:
209558843-209558843

G

A

intergenic

De novo

-

Yuen2016 G

PTH2R

AU031003

chr2:
209840161-209840161

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

AU054304

chr2:
209561796-209561796

T

A

intergenic

De novo

-

Yuen2017 G

PTH2R

AU4122301

chr2:
209739831-209739831

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

AU3891304

chr2:
209340310-209340310

G

A

intronic

De novo

-

Yuen2017 G

PTH2R

AU2863302

chr2:
209329937-209329937

G

A

intronic

De novo

-

Yuen2017 G

PTH2R

7-0197-003

chr2:
209721178-209721178

C

G

intergenic

De novo

-

Yuen2017 G

PTH2R

AU4228301

chr2:
209517548-209517548

G

A

intergenic

De novo

-

Yuen2017 G

PTH2R

AU031204

chr2:
209347506-209347506

A

T

intronic

De novo

-

Yuen2017 G

PTH2R

2-0022-005

chr2:
209668896-209668896

A

C

intergenic

De novo

-

Yuen2017 G

PTH2R

2-0198-004

chr2:
209587444-209587444

C

A

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1299-003

chr2:
209674120-209674120

A

G

intergenic

De novo

-

Yuen2017 G

PTH2R

AU2793303

chr2:
210002528-210002528

A

G

intergenic

De novo

-

Yuen2017 G

PTH2R

AU4263304

chr2:
210160804-210160804

C

A

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0627-006

chr2:
209970109-209970109

A

T

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0121-003

chr2:
210071000-210071000

G

T

intergenic

De novo

-

Yuen2017 G

PTH2R

AU3912303

chr2:
210118830-210118830

T

G

intergenic

De novo

-

Yuen2017 G

PTH2R

2-0214-004

chr2:
209642299-209642299

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

AU3912303

chr2:
210118897-210118897

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

AU4153301

chr2:
209645683-209645683

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1689-003

chr2:
210190016-210190016

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1212-003

chr2:
209420636-209420636

G

A

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1689-003

chr2:
210196580-210196580

T

A

intergenic

De novo

-

Yuen2017 G

PTH2R

AU031203

chr2:
209500416-209500416

A

C

intergenic

De novo

-

Yuen2017 G

PTH2R

AU3190305

chr2:
210084970-210084974

ACTGC

AC

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1629-003

chr2:
209999175-209999175

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0099-003

chr2:
209973625-209973625

C

G

intergenic

De novo

-

Yuen2017 G

PTH2R

AU1725302

chr2:
209520015-209520015

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

TRE_2591

chr2:
209358150-209358150

T

C

exonic

De novo

synonymous SNV

NM_001309516
NM_005048

c.T1086C
c.T1419C

p.L362L
p.L473L

-

Fu2022 E

PTH2R

1-0466-003

chr2:
210047406-210047406

G

A

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0259-005

chr2:
210211456-210211456

A

G

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1359-004

chr2:
209300033-209300033

G

T

intronic

De novo

-

Yuen2017 G

PTH2R

AU3716302

chr2:
209856711-209856711

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

AU4308302

chr2:
209978756-209978756

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1196-003

chr2:
210093482-210093482

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1196-003

chr2:
209998192-209998192

C

A

intergenic

De novo

-

Yuen2017 G

PTH2R

AU3154302

chr2:
209697033-209697033

G

A

intergenic

De novo

-

Yuen2017 G

PTH2R

AU3645301

chr2:
209499883-209499883

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0141-003

chr2:
209755111-209755111

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

AU4056301

chr2:
209952546-209952546

T

C

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1508-003

chr2:
210178516-210178516

C

G

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0651-003

chr2:
209760178-209760178

G

A

intergenic

De novo

-

Yuen2017 G

PTH2R

1-0651-003

chr2:
209760176-209760176

G

C

intergenic

De novo

-

Yuen2017 G

PTH2R

2-0144-004

chr2:
209534096-209534096

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

AU3777302

chr2:
210082627-210082627

T

A

intergenic

De novo

-

Yuen2017 G

PTH2R

iHART1057

chr2:
209309610-209309610

G

A

exonic

Maternal

stopgain

NM_001309516
NM_005048

c.G518A
c.G851A

p.W173X
p.W284X

39.0

4.0E-4

Ruzzo2019 G

PTH2R

11456.p1

chr2:
209910827-209910827

A

G

intergenic

De novo

-

Turner2016 G

PTH2R

iHART2576

chr2:
209324688-209324688

T

C

splicing

Maternal

splicing

18.68

2.475E-5

Ruzzo2019 G

PTH2R

2-1129-003

chr2:
210062698-210062698

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PTH2R

2-1722-003

chr2:
210242842-210242842

A

C

intergenic

De novo

-

Yuen2017 G

PTH2R

AU027506

chr2:
209235677-209235677

T

G

intronic

De novo

-

Yuen2017 G

PTH2R

iHART2577

chr2:
209324688-209324688

T

C

splicing

Maternal

splicing

18.68

2.475E-5

Ruzzo2019 G

PTH2R

5-0148-003

chr2:
209676765-209676765

A

G

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1461-003

chr2:
209572558-209572558

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PTH2R

11252.p1

chr2:
210102246-210102246

C

A

intergenic

De novo

-

Turner2016 G

PTH2R

1-0661-003

chr2:
209521609-209521609

G

C

intergenic

De novo

-

Yuen2017 G

PTH2R

74-0352

chr2:
209892174-209892174

T

C

intergenic

De novo

-

Michaelson2012 G

PTH2R

1-0708-003

chr2:
209783468-209783468

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

2-1213-003

chr2:
209969838-209969838

C

T

intergenic

De novo

-

Yuen2017 G

PTH2R

AU2248302

chr2:
209397117-209397118

CT

C

intergenic

De novo

-

Yuen2017 G

PTH2R

A16

chr2:
210173056-210173056

G

C

intergenic

De novo

-

Wu2018 G

PTH2R

7-0143-003

chr2:
209381077-209381077

G

A

intergenic

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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