Variant Results

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Results for "NPHP4"

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

NPHP4

1-0835-003

chr1:
6013206-6013206

G

A

intronic

De novo

-

-

Yuen2017 G

NPHP4

AU1640302

chr1:
6013988-6013988

G

T

intronic

De novo

-

-

Yuen2017 G

NPHP4

DEASD_4035_001

chr1:
5927725-5927725

G

A

intronic

De novo

-

-

Fu2022 E

NPHP4

2-1228-003

chr1:
5961303-5961303

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NPHP4

2-1567-003

chr1:
6006125-6006125

C

A

intronic

De novo

-

-

Yuen2017 G

NPHP4

11879-1

chr1:
6046273-6046273

T

G

exonic

De novo

nonsynonymous SNV

NM_015102

c.A77C

p.K26T

13.54

-

Fu2022 E

NPHP4

1-0139-003

chr1:
5927920-5927920

C

T

exonic

De novo

nonsynonymous SNV

NM_001291594
NM_001291593
NM_015102

c.G1816A
c.G1813A
c.G3352A

p.V606M
p.V605M
p.V1118M

21.5

Yuen2017 G

NPHP4

2-1356-003

chr1:
5940091-5940106

GCACACACACACACAC

GCACACACACACAC

intronic

De novo

-

-

Yuen2017 G

NPHP4

AU3724301

chr1:
5929016-5929016

A

ATGC

intronic

De novo

-

-

Yuen2017 G

NPHP4

1-0520-003

chr1:
6028050-6028050

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NPHP4

08C72794

chr1:
6012771-6012771

G

A

exonic

De novo

nonsynonymous SNV

NM_015102

c.C799T

p.H267Y

0.223

-

Fu2022 E
Satterstrom2020 E

NPHP4

2-0126-004

chr1:
5963087-5963087

G

C

intronic

De novo

-

-

Yuen2017 G

NPHP4

AU038203

chr1:
6006922-6006922

C

T

intronic

De novo

-

-

Yuen2017 G

NPHP4

2-1241-003

chr1:
6014128-6014128

T

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

NPHP4

AU241A

chr1:
5927204-5927204

C

T

intronic

De novo

-

-

Kosmicki2017 E

NPHP4

JASD_Fam0236

chr1:
5935138-5935138

T

C

exonic

De novo

nonsynonymous SNV

NM_001291594
NM_001291593
NM_015102

c.A1304G
c.A1301G
c.A2840G

p.Q435R
p.Q434R
p.Q947R

10.73

-

Takata2018 E

NPHP4

AU006804

chr1:
5958619-5958625

GCTCTCT

GCTCT

intronic

De novo

-

-

Yuen2017 G

NPHP4

Cukier2014:17122

chr1:
5965455-5965455

C

T

exonic

Unknown

nonsynonymous SNV

NM_001291594
NM_001291593
NM_015102

c.G316A
c.G313A
c.G1852A

p.E106K
p.E105K
p.E618K

16.89

Cukier2014 E

NPHP4

SP0061913

chr1:
6027473-6027473

A

C

intronic

De novo

-

-

Fu2022 E

NPHP4

5-0046-003

chr1:
5977532-5977532

G

A

intronic

De novo

-

-

Yuen2017 G

NPHP4

iHART3087

chr1:
5969253-5969253

G

A

exonic

Paternal

stopgain

NM_015102

c.C1462T

p.R488X

37.0

Ruzzo2019 G

NPHP4

SP0044787

chr1:
6012732-6012733

GC

G

intronic

De novo

-

Fu2022 E

NPHP4

iHART3086

chr1:
5969253-5969253

G

A

exonic

Paternal

stopgain

NM_015102

c.C1462T

p.R488X

37.0

Ruzzo2019 G

NPHP4

SP0100138

chr1:
5937413-5937413

A

T

intronic

De novo

-

-

Fu2022 E

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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