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Results for "PPM1D"

Variant Events: 9

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
PPM1D     2-1244-003chr17:
58678679-58678679
GCintronicDe novo--Yuen2016 G
Yuen2017 G
PPM1D     AU4056301chr17:
58695523-58695523
GCintronicDe novo--Yuen2017 G
PPM1D     Mahjani2021:93chr17:
58740658-58740658
GGAAexonicframeshift insertionNM_003620c.1563_1564insAAp.M521fs--Mahjani2021 E
PPM1D     M23765chr17:
58711261-58711261
GAexonicMaternalnonsynonymous SNVNM_003620c.G749Ap.R250Q31.0-Guo2018 T
Wang2016 T
PPM1D     12340.p1chr17:
58740376-58740376
GAexonicDe novostopgainNM_003620c.G1281Ap.W427X38.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Willsey2013 E
PPM1D     222161chr17:
58740381-58740382
GGGexonicInheritedframeshift deletionNM_003620c.1287delGp.R429fs--Stessman2017 T
PPM1D     SSC04635chr17:
58740376-58740376
GAexonicDe novostopgainNM_003620c.G1281Ap.W427X38.0-Lim2017 E
PPM1D     220-9961-201chr17:
58734033-58734033
GAexonicUnknownnonsynonymous SNVNM_003620c.G1091Ap.R364Q35.0-Stessman2017 T
PPM1D     2-1277-003chr17:
58701178-58701178
AATintronicDe 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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