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Results for "PNPLA7"

Variant Events: 15

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
PNPLA7     14189.p1chr9:
140358800-140358800
GAexonicDe novostopgainNM_152286
NM_001098537
c.C3073T
c.C3148T
p.Q1025X
p.Q1050X
33.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PNPLA7     08C72819chr9:
140392579-140392579
GAexonicDe novostopgainNM_152286
NM_001098537
c.C1801T
c.C1876T
p.R601X
p.R626X
40.02.503E-5Satterstrom2020 E
PNPLA7     1-0454-003chr9:
140412605-140412612
TCACGCACTCACintronicDe novo--Yuen2017 G
PNPLA7     SSC12704chr9:
140358800-140358800
GAexonicDe novostopgainNM_152286
NM_001098537
c.C3073T
c.C3148T
p.Q1025X
p.Q1050X
33.0-Lim2017 E
PNPLA7     AU3057301chr9:
140443283-140443283
CTintronicDe novo--Yuen2017 G
PNPLA7     AU056005chr9:
140416773-140416773
AGintronicDe novo--Yuen2017 G
PNPLA7     AU021204chr9:
140390555-140390557
ACTAintronicDe novo--Yuen2017 G
PNPLA7     ASC_CA_147_Achr9:
140396070-140396070
GCintronicDe novo--Satterstrom2020 E
PNPLA7     1-0329-004chr9:
140363829-140363829
GAintronicDe novo--Yuen2017 G
PNPLA7     2-1375-003chr9:
140379487-140379487
TAintronicDe novo--Yuen2016 G
Yuen2017 G
PNPLA7     A23chr9:
140435064-140435064
GTintronicDe novo--Wu2018 G
PNPLA7     1-0007-003chr9:
140431791-140431791
GCintronicDe novo--Yuen2017 G
PNPLA7     1-0383-003chr9:
140377258-140377258
AGintronicDe novo--Yuen2017 G
PNPLA7     AU3632301chr9:
140433855-140433855
GAintronicDe novo--Yuen2017 G
PNPLA7     12249.p1chr9:
140357232-140357232
TGexonicDe novononsynonymous SNVNM_152286
NM_001098537
c.A3322C
c.A3397C
p.S1108R
p.S1133R
20.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 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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