Variant Results

or

Results for "NLRP2"

Variant Events: 17

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

NLRP2

Al-Mubarak2017:ASD-17

chr19:
55493589-55493589

T

C

exonic

Unknown

nonsynonymous SNV

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.T457C
c.T523C
c.T523C
c.T454C

p.W153R
p.W175R
p.W175R
p.W152R

5.179

8.239E-6

Al-Mubarak2017 E

NLRP2

7902-03-002

chr19:
55494645-55494645

G

A

exonic

De novo

nonsynonymous SNV

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.G1513A
c.G1579A
c.G1579A
c.G1510A

p.G505S
p.G527S
p.G527S
p.G504S

7.279

8.242E-6

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NLRP2

SP0042982

chr19:
55502034-55502034

C

G

exonic

De novo

nonsynonymous SNV

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.C2636G
c.C2702G
c.C2702G
c.C2633G

p.T879S
p.T901S
p.T901S
p.T878S

0.009

-

Fu2022 E
Trost2022 G
Zhou2022 GE

NLRP2

1-0638-003

chr19:
55478392-55478392

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

NLRP2

mAGRE4074

chr19:
55496575-55496575

C

T

exonic

Paternal

stopgain

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.C2125T
c.C2191T
c.C2191T
c.C2122T

p.Q709X
p.Q731X
p.Q731X
p.Q708X

37.0

-

Cirnigliaro2023 G

NLRP2

mAGRE2528

chr19:
55492983-55492983

A

T

splicing

Maternal

splicing

1.855

4.0E-4

Cirnigliaro2023 G

NLRP2

1-0595-004

chr19:
55478161-55478161

C

T

intronic

De novo

-

Yuen2017 G

NLRP2

iHART2528

chr19:
55492983-55492983

A

T

splicing

Maternal

splicing

1.855

4.0E-4

Ruzzo2019 G

NLRP2

G01_GEA472HI

chr19:
55494372-55494372

C

G

exonic

De novo

nonsynonymous SNV

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.C1240G
c.C1306G
c.C1306G
c.C1237G

p.R414G
p.R436G
p.R436G
p.R413G

4.555

-

Fu2022 E

NLRP2

iHART2083

chr19:
55497571-55497571

C

T

exonic

Paternal

stopgain

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.C2188T
c.C2254T
c.C2254T
c.C2185T

p.R730X
p.R752X
p.R752X
p.R729X

37.0

-

Ruzzo2019 G

NLRP2

iHART2079

chr19:
55497571-55497571

C

T

exonic

Paternal

stopgain

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.C2188T
c.C2254T
c.C2254T
c.C2185T

p.R730X
p.R752X
p.R752X
p.R729X

37.0

-

Ruzzo2019 G

NLRP2

REACH000377

chr19:
55489368-55489368

C

T

intronic

De novo

-

Trost2022 G

NLRP2

mAGRE4532

chr19:
55501561-55501561

G

A

splicing

Paternal

splicing

10.78

1.648E-5

Cirnigliaro2023 G

NLRP2

1-0065-004

chr19:
55478161-55478161

C

T

intronic

De novo

-

Yuen2017 G

NLRP2

1-1129-003

chr19:
55486084-55486084

C

G

intronic

De novo

-

Trost2022 G

NLRP2

mAGRE2083

chr19:
55497571-55497571

C

T

exonic

Paternal

stopgain

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.C2188T
c.C2254T
c.C2254T
c.C2185T

p.R730X
p.R752X
p.R752X
p.R729X

37.0

-

Cirnigliaro2023 G

NLRP2

mAGRE2079

chr19:
55497571-55497571

C

T

exonic

Paternal

stopgain

NM_001174082
NM_001174081
NM_017852
NM_001174083

c.C2188T
c.C2254T
c.C2254T
c.C2185T

p.R730X
p.R752X
p.R752X
p.R729X

37.0

-

Cirnigliaro2023 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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