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Results for "PARP10"

Variant Events: 14

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
PARP10     1-0299-003chr8:
145062904-145062904
GAintergenicDe novo--Yuen2017 G
PARP10     2-1408-004chr8:
145056221-145056221
GGACAintronicDe novo--Yuen2017 G
PARP10     iHART1145chr8:
145052148-145052148
GTexonicMaternalstopgainNM_032789c.C2658Ap.Y886X38.0-Ruzzo2019 G
PARP10     iHART2361chr8:
145060111-145060111
CAexonicPaternalstopgainNM_032789c.G214Tp.E72X11.659.895E-6Ruzzo2019 G
PARP10     iHART2550chr8:
145059585-145059585
CAexonicDe novononsynonymous SNVNM_032789c.G668Tp.W223L16.61-Ruzzo2019 G
PARP10     AU4007302chr8:
145055757-145055765
GTGATGATGGTGATGintronicDe novo--Yuen2017 G
PARP10     AU050403chr8:
145052590-145052590
GCintronicDe novo--Yuen2017 G
PARP10     Lim2017:36838chr8:
145059354-145059354
AGexonicDe novosynonymous SNVNM_032789c.T816Cp.A272A--Lim2017 E
PARP10     1-0144-005chr8:
145062890-145062890
CAintergenicDe novo--Yuen2017 G
PARP10     2-0198-005chr8:
145062890-145062890
CAintergenicDe novo--Yuen2017 G
PARP10     2-1277-004chr8:
145062901-145062901
GAintergenicDe novo--Yuen2017 G
PARP10     1-0049-004chr8:
145062904-145062904
GAintergenicDe novo--Yuen2017 G
PARP10     14545.p1chr8:
145059354-145059354
AGexonicDe novosynonymous SNVNM_032789c.T816Cp.A272A--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PARP10     1-0458-005chr8:
145056140-145056140
GGAintronicDe 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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