Variant Results

or

Results for "NLRP3"

Variant Events: 11

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

NLRP3

Lim2017:35953

chr1:
247582253-247582253

G

A

exonic

De novo

nonsynonymous SNV

NM_001127462
NM_001243133
NM_004895
NM_183395
NM_001127461
NM_001079821

c.G157A
c.G151A
c.G157A
c.G157A
c.G157A
c.G157A

p.D53N
p.D51N
p.D53N
p.D53N
p.D53N
p.D53N

22.2

8.266E-6

Lim2017 E

NLRP3

SP0112915

chr1:
247582266-247582266

T

C

exonic

De novo

nonsynonymous SNV

NM_001127462
NM_001243133
NM_004895
NM_183395
NM_001127461
NM_001079821

c.T170C
c.T164C
c.T170C
c.T170C
c.T170C
c.T170C

p.L57P
p.L55P
p.L57P
p.L57P
p.L57P
p.L57P

17.55

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NLRP3

1-0447-003

chr1:
247606532-247606551

CTTATTTATTTATTTATTTA

CTTATTTATTTATTTA

intronic

De novo

-

Yuen2017 G

NLRP3

mAGRE6018

chr1:
247611714-247611714

G

T

exonic

Maternal

stopgain

NM_183395
NM_001127462
NM_001127461
NM_001243133
NM_004895
NM_001079821

c.G2677T
c.G2848T
c.G2848T
c.G3013T
c.G3019T
c.G3019T

p.E893X
p.E950X
p.E950X
p.E1005X
p.E1007X
p.E1007X

46.0

-

Cirnigliaro2023 G

NLRP3

AU2863302

chr1:
247607574-247607574

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

NLRP3

SP0010889

chr1:
247586650-247586650

A

T

exonic

De novo

nonsynonymous SNV

NM_001127462
NM_001243133
NM_004895
NM_183395
NM_001127461
NM_001079821

c.A402T
c.A396T
c.A402T
c.A402T
c.A402T
c.A402T

p.K134N
p.K132N
p.K134N
p.K134N
p.K134N
p.K134N

16.82

-

Fu2022 E

NLRP3

AU4173301

chr1:
247583800-247583800

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NLRP3

AU3885304

chr1:
247597191-247597191

G

T

intronic

De novo

-

Trost2022 G

NLRP3

13277.p1

chr1:
247582253-247582253

G

A

exonic

De novo

nonsynonymous SNV

NM_001127462
NM_001243133
NM_004895
NM_183395
NM_001127461
NM_001079821

c.G157A
c.G151A
c.G157A
c.G157A
c.G157A
c.G157A

p.D53N
p.D51N
p.D53N
p.D53N
p.D53N
p.D53N

22.2

8.266E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

NLRP3

14143.p1

chr1:
247611853-247611853

G

C

UTR3

De novo

-

Satterstrom2020 E
Trost2022 G

NLRP3

35953

chr1:
247582253-247582253

G

A

exonic

De novo

nonsynonymous SNV

NM_001127462
NM_001243133
NM_004895
NM_183395
NM_001127461
NM_001079821

c.G157A
c.G151A
c.G157A
c.G157A
c.G157A
c.G157A

p.D53N
p.D51N
p.D53N
p.D53N
p.D53N
p.D53N

22.2

8.266E-6

Fu2022 E
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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