Variant Results

or

Results for "NXPH1"

Variant Events: 96

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

NXPH1

AU017703

chr7:
9400243-9400243

G

A

intergenic

De novo

-

Yuen2017 G

NXPH1

A23

chr7:
8480686-8480686

G

T

intronic

De novo

-

Wu2018 G

NXPH1

1-0025-006

chr7:
8790713-8790713

C

A

exonic

De novo

nonsynonymous SNV

NM_152745

c.C130A

p.H44N

11.5

-

Trost2022 G
Yuen2015 G
Zhou2022 GE

NXPH1

1-0552-003

chr7:
9521879-9521879

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

2-0309-005

chr7:
8737961-8737961

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

AU3794302

chr7:
9003344-9003351

ATATGTAT

ATAT

intergenic

De novo

-

Yuen2017 G

NXPH1

AU4234302

chr7:
9224560-9224560

G

C

intergenic

De novo

-

Yuen2017 G

NXPH1

2-1251-003

chr7:
9200241-9200241

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0464-003

chr7:
9385435-9385435

C

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NXPH1

1-0329-003

chr7:
9285844-9285844

G

C

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0835-003

chr7:
9187496-9187496

C

A

intergenic

De novo

-

Yuen2017 G

NXPH1

2-1329-003

chr7:
8580349-8580349

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

NXPH1

2-1526-003

chr7:
9203293-9203293

A

ATGATGGT

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0352-005

chr7:
8490061-8490061

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

AU018010

chr7:
9624142-9624142

G

T

intergenic

De novo

-

Yuen2017 G

NXPH1

AU3760302

chr7:
8664319-8664319

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

3-0396-000

chr7:
9610185-9610185

A

T

intergenic

De novo

-

Yuen2016 G

NXPH1

AU3517302

chr7:
9077574-9077574

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

AU4033305

chr7:
9055669-9055669

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0448-003

chr7:
8510292-8510292

C

T

intronic

De novo

-

Yuen2017 G

NXPH1

AU3905301

chr7:
8707857-8707857

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

2-1594-003

chr7:
9484104-9484104

T

G

intergenic

De novo

-

Yuen2017 G

NXPH1

AU4487302

chr7:
8615654-8615654

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

2-0286-004

chr7:
8802811-8802811

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

AU4054302

chr7:
9380457-9380457

A

C

intergenic

De novo

-

Yuen2017 G

NXPH1

2-1278-003

chr7:
9325841-9325841

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NXPH1

2-1633-003

chr7:
9065865-9065865

T

A

intergenic

De novo

-

Yuen2017 G

NXPH1

2-1182-003

chr7:
9074803-9074803

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NXPH1

1-0706-003

chr7:
8808405-8808405

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

AU1952305

chr7:
9287436-9287436

T

A

intergenic

De novo

-

Yuen2017 G

NXPH1

AU2123302

chr7:
8803194-8803203

ATCTCTCTCT

ATCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

NXPH1

2-1356-003

chr7:
9312470-9312470

A

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NXPH1

7-0058-003

chr7:
8663294-8663294

T

TCTCTAGG

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

AU057404

chr7:
8761853-8761853

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

1-0271-003

chr7:
9567345-9567345

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

7-0100-003

chr7:
8963980-8963980

G

A

intergenic

De novo

-

Yuen2017 G

NXPH1

AU3637301

chr7:
9414804-9414804

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

AU3646301

chr7:
8673126-8673126

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

1-0433-004

chr7:
9002289-9002289

A

C

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0080-003

chr7:
8707707-8707707

T

C

intronic

De novo

-

Yuen2017 G

NXPH1

1-0372-003

chr7:
9632389-9632389

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NXPH1

2-1501-003

chr7:
9143733-9143733

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0347-003

chr7:
8937145-8937145

G

C

intergenic

De novo

-

Yuen2017 G

NXPH1

2-1184-003

chr7:
9409816-9409816

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

NXPH1

AU011704

chr7:
9007157-9007160

CTTT

C

intergenic

De novo

-

Yuen2017 G

NXPH1

60-2027

chr7:
8739034-8739034

A

G

intronic

De novo

-

Michaelson2012 G

NXPH1

AU3451301

chr7:
8893764-8893764

G

A

intergenic

De novo

-

Yuen2017 G

NXPH1

AU4237301

chr7:
9036206-9036206

G

T

intergenic

De novo

-

Yuen2017 G

NXPH1

13946.p1

chr7:
9013236-9013236

C

T

intergenic

De novo

-

Turner2016 G

NXPH1

1-0121-003

chr7:
8865192-8865192

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

AU017704

chr7:
8577275-8577275

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

AU3911302

chr7:
9403978-9403978

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

ASP055

chr7:
8790890-8790890

A

G

exonic

De novo

nonsynonymous SNV

NM_152745

c.A307G

p.R103G

14.77

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NXPH1

AU012803

chr7:
8849003-8849003

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

AU1542301

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

1-0466-003

chr7:
9654792-9654792

G

A

intergenic

De novo

-

Yuen2017 G

NXPH1

7-0253-005

chr7:
8921097-8921097

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

AU3881301

chr7:
9465712-9465712

C

G

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0295-003

chr7:
8768173-8768173

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

1-0295-003

chr7:
8764458-8764458

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

5-0077-003

chr7:
8635105-8635105

C

CAT

intronic

De novo

-

Yuen2017 G

NXPH1

JASD_Fam0162

chr7:
8790890-8790890

A

G

exonic

De novo

nonsynonymous SNV

NM_152745

c.A307G

p.R103G

14.77

-

Takata2018 E

NXPH1

1-0701-003

chr7:
8899057-8899057

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

1-0826-004

chr7:
9377182-9377182

G

A

intergenic

De novo

-

Yuen2017 G

NXPH1

7-0253-005

chr7:
9617091-9617091

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

AU0780302

chr7:
9150094-9150094

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

AU2381302

chr7:
9321279-9321279

T

A

intergenic

De novo

-

Yuen2017 G

NXPH1

AU011604

chr7:
9476471-9476471

G

A

intergenic

De novo

-

Yuen2017 G

NXPH1

1-1004-003

chr7:
9480211-9480211

C

G

intergenic

De novo

-

Yuen2017 G

NXPH1

AU4092302

chr7:
9082734-9082734

G

A

intergenic

De novo

-

Yuen2017 G

NXPH1

MT_181.4

chr7:
8604211-8604211

A

G

intronic

De novo

-

Trost2022 G

NXPH1

1-0352-003

chr7:
8490061-8490061

G

C

intronic

De novo

-

Yuen2016 G

NXPH1

1-0347-003

chr7:
8611617-8611618

AG

TT

intronic

De novo

-

Trost2022 G

NXPH1

5-0015-003

chr7:
8750653-8750653

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NXPH1

3-0430-000

chr7:
9370026-9370026

G

A

intergenic

De novo

-

Yuen2016 G

NXPH1

2-1504-003

chr7:
8555880-8555880

G

A

intronic

De novo

-

Trost2022 G

NXPH1

5-0055-004

chr7:
8909000-8909000

T

C

intergenic

De novo

-

Yuen2017 G

NXPH1

MSSNG00173-003

chr7:
8576878-8576878

C

G

intronic

De novo

-

Trost2022 G

NXPH1

MSSNG00039-004

chr7:
8530537-8530537

C

T

intronic

De novo

-

Trost2022 G

NXPH1

1-0531-003

chr7:
8481130-8481130

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NXPH1

2-0149-003

chr7:
9264103-9264103

C

G

intergenic

De novo

-

Yuen2017 G

NXPH1

2-1090-003

chr7:
8554848-8554848

C

T

intronic

De novo

-

Trost2022 G

NXPH1

AU4250301

chr7:
8969994-8969994

A

G

intergenic

De novo

-

Yuen2017 G

NXPH1

5-1003-003

chr7:
8491817-8491817

G

A

intronic

De novo

-

Trost2022 G

NXPH1

2-1773-003

chr7:
8499457-8499457

T

A

intronic

De novo

-

Trost2022 G

NXPH1

5-0025-004

chr7:
9194655-9194655

T

TC

intergenic

De novo

-

Yuen2017 G

NXPH1

7-0371-003

chr7:
8775535-8775535

C

G

intronic

De novo

-

Trost2022 G

NXPH1

AU2485305

chr7:
9640320-9640320

C

T

intergenic

De novo

-

Yuen2017 G

NXPH1

4-0062-003

chr7:
8788011-8788012

CT

GA

intronic

De novo

-

Trost2022 G

NXPH1

2-0126-004

chr7:
8742334-8742341

ATTATGCC

TAGGTGAAACACT

intronic

De novo

-

Trost2022 G

NXPH1

2-1750-003

chr7:
8748228-8748228

G

A

intronic

De novo

-

Trost2022 G

NXPH1

3-0065-000

chr7:
9579520-9579533

TTCTCTCTCTCTCT

TTCTCTCTCTCT

intergenic

De novo

-

Yuen2017 G

NXPH1

1004

chr7:
8666242-8666242

C

T

intronic

De novo

-

Trost2022 G

NXPH1

SJD_34.3

chr7:
8712389-8712389

G

A

intronic

De novo

-

Trost2022 G

NXPH1

AU023012

chr7:
8637601-8637601

A

G

intronic

De novo

-

Trost2022 G

NXPH1

1025

chr7:
8649214-8649214

C

G

intronic

De novo

-

Trost2022 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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