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Results for "PRG4"

Variant Events: 5

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
PRG4     SP0006667chr1:
186281999-186281999
GAexonicDe novononsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.G3688A
c.G3811A
c.G3967A
c.G3961A
c.G4090A
p.G1230S
p.G1271S
p.G1323S
p.G1321S
p.G1364S
19.894.946E-5Feliciano2019 E
PRG4     SSC00317chr1:
186281435-186281435
AGexonicDe novononsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.A3520G
c.A3643G
c.A3799G
c.A3793G
c.A3922G
p.I1174V
p.I1215V
p.I1267V
p.I1265V
p.I1308V
4.741-Lim2017 E
PRG4     1360JS0011chr1:
186276795-186276795
CTexonicDe novosynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.C1542T
c.C1665T
c.C1821T
c.C1815T
c.C1944T
p.L514L
p.L555L
p.L607L
p.L605L
p.L648L
-1.695E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PRG4     04C37818chr1:
186275867-186275867
CAexonicDe novononsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.C614A
c.C737A
c.C893A
c.C887A
c.C1016A
p.T205N
p.T246N
p.T298N
p.T296N
p.T339N
13.14-Satterstrom2020 E
PRG4     11026.p1chr1:
186281435-186281435
AGexonicDe novononsynonymous SNVNM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807
c.A3520G
c.A3643G
c.A3799G
c.A3793G
c.A3922G
p.I1174V
p.I1215V
p.I1267V
p.I1265V
p.I1308V
4.741-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
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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