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Results for "NPHP4"

Variant Events: 19

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     1-0835-003chr1:
6013206-6013206
GAintronicDe novo--Yuen2017 G
NPHP4     AU1640302chr1:
6013988-6013988
GTintronicDe novo--Yuen2017 G
NPHP4     2-1228-003chr1:
5961303-5961303
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NPHP4     2-1567-003chr1:
6006125-6006125
CAintronicDe novo--Yuen2017 G
NPHP4     1-0139-003chr1:
5927920-5927920
CTexonicDe novononsynonymous SNVNM_001291594
NM_001291593
NM_015102
c.G1816A
c.G1813A
c.G3352A
p.V606M
p.V605M
p.V1118M
21.54.992E-5Yuen2017 G
NPHP4     2-1356-003chr1:
5940091-5940106
GCACACACACACACACGCACACACACACACintronicDe novo--Yuen2017 G
NPHP4     AU3724301chr1:
5929016-5929016
AATGCintronicDe novo--Yuen2017 G
NPHP4     1-0520-003chr1:
6028050-6028050
GAintronicDe novo--Yuen2016 G
Yuen2017 G
NPHP4     08C72794chr1:
6012771-6012771
GAexonicDe novononsynonymous SNVNM_015102c.C799Tp.H267Y0.223-Satterstrom2020 E
NPHP4     2-0126-004chr1:
5963087-5963087
GCintronicDe novo--Yuen2017 G
NPHP4     AU038203chr1:
6006922-6006922
CTintronicDe novo--Yuen2017 G
NPHP4     2-1241-003chr1:
6014128-6014128
TGintronicDe novo--Yuen2016 G
Yuen2017 G
NPHP4     AU241Achr1:
5927204-5927204
CTintronicDe novo--Kosmicki2017 E
NPHP4     JASD_Fam0236chr1:
5935138-5935138
TCexonicDe novononsynonymous SNVNM_001291594
NM_001291593
NM_015102
c.A1304G
c.A1301G
c.A2840G
p.Q435R
p.Q434R
p.Q947R
10.73-Takata2018 E
NPHP4     AU006804chr1:
5958619-5958625
GCTCTCTGCTCTintronicDe novo--Yuen2017 G
NPHP4     Cukier2014:17122chr1:
5965455-5965455
CTexonicUnknownnonsynonymous SNVNM_001291594
NM_001291593
NM_015102
c.G316A
c.G313A
c.G1852A
p.E106K
p.E105K
p.E618K
16.890.0103Cukier2014 E
NPHP4     5-0046-003chr1:
5977532-5977532
GAintronicDe novo--Yuen2017 G
NPHP4     iHART3087chr1:
5969253-5969253
GAexonicPaternalstopgainNM_015102c.C1462Tp.R488X37.01.0E-4Ruzzo2019 G
NPHP4     iHART3086chr1:
5969253-5969253
GAexonicPaternalstopgainNM_015102c.C1462Tp.R488X37.01.0E-4Ruzzo2019 G
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 notesView
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