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Results for "PARP15"

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
PARP15     REACH000144chr3:
122343739-122343739
AGintronicDe novo--Trost2022 G
PARP15     SP0246311chr3:
122345755-122345755
CTexonicDe novononsynonymous SNVNM_152615
NM_001113523
c.C611T
c.C1313T
p.P204L
p.P438L
12.92-Trost2022 G
PARP15     MSSNG00027-004chr3:
122328914-122328914
TGintronicDe novo--Trost2022 G
PARP15     1-0260-004chr3:
122341268-122341268
CTintronicDe novo--Trost2022 G
PARP15     3-0019-000chr3:
122320422-122320422
AGintronicDe novo--Trost2022 G
PARP15     7-0266-003chr3:
122328004-122328004
AATTTTGintronicDe novo--Trost2022 G
PARP15     4-0085-003chr3:
122306751-122306751
CGintronicDe novo--Trost2022 G
PARP15     5-0073-003chr3:
122336955-122336955
TCintronicDe novo--Trost2022 G
Yuen2017 G
PARP15     1-0647-003chr3:
122315714-122315714
AGintronicDe novo--Trost2022 G
PARP15     2-1152-003chr3:
122333491-122333491
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PARP15     REACH000058chr3:
122357362-122357365
CATTCUTR3De novo--Trost2022 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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