or
or
Exact

Results for "PHF2"

Variant Events: 25

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
PHF2     AU1933302chr9:
96493301-96493301
ATintergenicDe novo--Yuen2017 G
PHF2     5-0095-003chr9:
96450150-96450152
CATCintergenicDe novo--Yuen2017 G
PHF2     M20280chr9:
96416765-96416765
CTexonicMaternalnonsynonymous SNVNM_005392c.C860Tp.A287V33.0-Wang2016 T
PHF2     2-1605-003chr9:
96415745-96415745
GAintronicDe novo--Yuen2017 G
PHF2     Ishay2021:25chr9:
96439216-96439216
CTexonicInheritednonsynonymous SNVNM_005392c.C3173Tp.S1058L12.290.0015Ishay2021 E
PHF2     Ishay2021:24chr9:
96422528-96422528
GAexonicInheritednonsynonymous SNVNM_005392c.G1384Ap.V462M7.2360.0011Ishay2021 E
PHF2     1-0354-006chr9:
96451063-96451063
ACintergenicDe novo--Yuen2017 G
PHF2     AU2437302chr9:
96563630-96563630
GAintergenicDe novo--Yuen2017 G
PHF2     AU3124302chr9:
96571328-96571328
CTintergenicDe novo--Yuen2017 G
PHF2     M03993chr9:
96439868-96439868
AGsplicingUnknownsplicing18.16-Guo2018 T
Wang2016 T
PHF2     G01-GEA-50-HIchr9:
96420400-96420400
CGintronicDe novo--Satterstrom2020 E
PHF2     AU4089302chr9:
96577780-96577780
CTintergenicDe novo--Yuen2017 G
PHF2     A30chr9:
96468225-96468225
CTintergenicDe novo--Wu2018 G
PHF2     AU1933301chr9:
96493301-96493301
ATintergenicDe novo--Yuen2017 G
PHF2     1-0263-003chr9:
96469412-96469412
CTintergenicDe novo--Yuen2016 G
PHF2     12323.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_005392
NM_005392
c.3263delT
c.3264delT
p.I1088fs
p.I1088fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
PHF2     2-1380-003chr9:
96362886-96362886
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PHF2     AU2381302chr9:
96346663-96346663
CGintronicDe novo--Yuen2017 G
PHF2     AU2109301chr9:
96452380-96452380
AGintergenicDe novo--Yuen2017 G
PHF2     SSC09846chr9:
96437988-96437988
CTexonicDe novostopgainNM_005392c.C2749Tp.Q917X36.0-Lim2017 E
PHF2     1-0300-003chr9:
96358462-96358462
CGintronicDe novo--Yuen2017 G
PHF2     M12492chr9:
96416765-96416765
CTexonicUnknownnonsynonymous SNVNM_005392c.C860Tp.A287V33.0-Wang2016 T
PHF2     13903.p1chr9:
96437988-96437988
CTexonicDe novostopgainNM_005392c.C2749Tp.Q917X36.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PHF2     AU3777301chr9:
96443971-96443971
GAintergenicDe novo--Yuen2017 G
PHF2     AU031003chr9:
96485276-96485276
GCintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More