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Results for "NLRP2"

Variant Events: 8

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-17chr19:
55493589-55493589
TCexonicUnknownnonsynonymous SNVNM_001174082
NM_001174081
NM_017852
NM_001174083
c.T457C
c.T523C
c.T523C
c.T454C
p.W153R
p.W175R
p.W175R
p.W152R
5.1798.239E-6Al-Mubarak2017 E
NLRP2     1-0595-004chr19:
55478161-55478161
CTintronicDe novo--Yuen2017 G
NLRP2     iHART2528chr19:
55492983-55492983
ATsplicingMaternalsplicing1.8554.0E-4Ruzzo2019 G
NLRP2     7902-03-002chr19:
55494645-55494645
GAexonicDe novononsynonymous SNVNM_001174082
NM_001174081
NM_017852
NM_001174083
c.G1513A
c.G1579A
c.G1579A
c.G1510A
p.G505S
p.G527S
p.G527S
p.G504S
7.2798.242E-6Satterstrom2020 E
NLRP2     iHART2083chr19:
55497571-55497571
CTexonicPaternalstopgainNM_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     1-0638-003chr19:
55478392-55478392
AGintronicDe novo--Yuen2017 G
NLRP2     iHART2079chr19:
55497571-55497571
CTexonicPaternalstopgainNM_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     1-0065-004chr19:
55478161-55478161
CTintronicDe novo--Yuen2017 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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