Variant Results

or

Results for "PRG4"

Variant Events: 12

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

SP0006667

chr1:
186281999-186281999

G

A

exonic

De novo

nonsynonymous SNV

NM_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

19.89

4.946E-5

Feliciano2019 E
Trost2022 G
Zhou2022 GE

PRG4

SSC00317

chr1:
186281435-186281435

A

G

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E
Lim2017 E
Trost2022 G

PRG4

SP0142234

chr1:
186276738-186276738

C

T

exonic

De novo

synonymous SNV

NM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807

c.C1485T
c.C1608T
c.C1764T
c.C1758T
c.C1887T

p.P495P
p.P536P
p.P588P
p.P586P
p.P629P

-

2.0E-4

Trost2022 G

PRG4

1360JS0011

chr1:
186276795-186276795

C

T

exonic

De novo

synonymous SNV

NM_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-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PRG4

04C37818

chr1:
186275867-186275867

C

A

exonic

De novo

nonsynonymous SNV

NM_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

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PRG4

1024_14au

chr1:
186276697-186276697

A

C

exonic

De novo

nonsynonymous SNV

NM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807

c.A1444C
c.A1567C
c.A1723C
c.A1717C
c.A1846C

p.T482P
p.T523P
p.T575P
p.T573P
p.T616P

3.131

8.437E-6

Fu2022 E

PRG4

mAGRE4117

chr1:
186277726-186277726

C

T

exonic

Maternal

stopgain

NM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807

c.C2473T
c.C2596T
c.C2752T
c.C2746T
c.C2875T

p.Q825X
p.Q866X
p.Q918X
p.Q916X
p.Q959X

14.95

-

Cirnigliaro2023 G

PRG4

mAGRE4116

chr1:
186277726-186277726

C

T

exonic

Maternal

stopgain

NM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807

c.C2473T
c.C2596T
c.C2752T
c.C2746T
c.C2875T

p.Q825X
p.Q866X
p.Q918X
p.Q916X
p.Q959X

14.95

-

Cirnigliaro2023 G

PRG4

mAGRE4693

chr1:
186277612-186277614

GAA

G

exonic

Paternal

frameshift deletion

NM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807

c.2360_2361del
c.2483_2484del
c.2639_2640del
c.2633_2634del
c.2762_2763del

p.E787fs
p.E828fs
p.E880fs
p.E878fs
p.E921fs

-

Cirnigliaro2023 G

PRG4

SP0075343

chr1:
186275823-186275823

A

G

exonic

De novo

synonymous SNV

NM_001127710
NM_001127709
NM_001127708
NM_001303232
NM_005807

c.A570G
c.A693G
c.A849G
c.A843G
c.A972G

p.T190T
p.T231T
p.T283T
p.T281T
p.T324T

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PRG4

SP0022030

chr1:
186266081-186266081

A

C

exonic

De novo

nonsynonymous SNV

NM_001127708
NM_001127709
NM_001127710
NM_001303232
NM_005807

c.A74C
c.A74C
c.A74C
c.A74C
c.A74C

p.Q25P
p.Q25P
p.Q25P
p.Q25P
p.Q25P

12.19

-

Fu2022 E

PRG4

11026.p1

chr1:
186281435-186281435

A

G

exonic

De novo

nonsynonymous SNV

NM_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
Zhou2022 GE

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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