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Results for "PHF7"

Variant Events: 13

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
PHF7     ACGC_HN0231.p1chr3:
52448524-52448534
GCCTTCGAGAAGexonicUnknownframeshift deletionNM_001278221
NM_016483
c.108_117del
c.108_117del
p.C36fs
p.C36fs
--Wang2020 T
PHF7     Iowa_242_3_a.2.1chr3:
52457125-52457127
CAGCexonicUnknownframeshift deletionNM_001278221
NM_016483
c.822_823del
c.939_940del
p.S274fs
p.S313fs
--Wang2020 T
PHF7     mAGRE2017chr3:
52448529-52448529
CTexonicMaternalstopgainNM_001278221
NM_016483
c.C112T
c.C112T
p.R38X
p.R38X
36.01.648E-5Cirnigliaro2023 G
PHF7     Leuven2_63465272chr3:
52453937-52453937
GAexonicUnknownnonsynonymous SNVNM_001278221
NM_016483
c.G275A
c.G275A
p.R92Q
p.R92Q
20.31.243E-5Wang2020 T
PHF7     2-1287-003chr3:
52456010-52456010
GCintronicDe novo--Trost2022 G
PHF7     AU050703chr3:
52457103-52457106
CCAGCCACsplicingInheritedsplicing16.91-Stessman2017 T
PHF7     ACGC_SD0326.p1chr3:
52457318-52457318
CCAexonicUnknownframeshift insertionNM_001278221
NM_016483
c.1015dupA
c.1132dupA
p.C338fs
p.C377fs
--Wang2020 T
PHF7     Leuven2_60433376chr3:
52445223-52445223
GAUTR5Unknown--Wang2020 T
PHF7     ACGC_M12422chr3:
52445044-52445044
GAUTR5Maternal--Wang2020 T
PHF7     AGRE_AU050703chr3:
52457106-52457106
GCsplicingUnknownsplicing16.91-Wang2020 T
Wang2020 T
PHF7     M12422chr3:
52445044-52445044
GAUTR5Maternal--Wang2016 T
PHF7     SSC04464chr3:
52454424-52454425
GCGexonicDe novoframeshift deletionNM_001278221
NM_016483
c.387delC
c.387delC
p.C129fs
p.C129fs
--Fu2022 E
Trost2022 G
PHF7     12383.p1chr3:
52454424-52454425
GCGexonicDe novo, Unknownframeshift deletionNM_001278221
NM_016483
c.387delC
c.387delC
p.C129fs
p.C129fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE
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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