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Results for "PHF3"

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
PHF3     13931.p1chr6:
64423108-64423108
CTexonicDe novononsynonymous SNVNM_015153
NM_001290259
c.C5624T
c.C5360T
p.A1875V
p.A1787V
7.77-Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
PHF3     AU034903chr6:
64390197-64390197
GCintronicDe novo--Yuen2017 G
PHF3     217-14290-4110chr6:
64422052-64422059
TAAAAGTTTexonicMaternalframeshift deletionNM_015153
NM_001290259
c.4569_4575del
c.4305_4311del
p.I1523fs
p.I1435fs
--Stessman2017 T
PHF3     1-0067-005chr6:
64397278-64397278
TCintronicDe novo--Yuen2017 G
PHF3     AU2427301chr6:
64413519-64413527
CACAGACAGCACAGexonicDe novoframeshift deletionNM_015153
NM_001290259
c.3330_3333del
c.3066_3069del
p.R1110fs
p.R1022fs
--Yuen2017 G
PHF3     14133.p1chr6:
64413433-64413435
CCGCexonicDe novoframeshift deletionNM_015153
NM_001290259
c.3240_3241del
c.2976_2977del
p.A1080fs
p.A992fs
--Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PHF3     2-1736-003chr6:
64345725-64345725
GAUTR5De novo--Yuen2017 G
PHF3     iHART2916chr6:
64413519-64413523
CACAGCexonicDe novoframeshift deletionNM_015153
NM_001290259
c.3326_3329del
c.3062_3065del
p.H1109fs
p.H1021fs
--Ruzzo2019 G
PHF3     5-0131-003chr6:
64387779-64387779
CTintronicDe novo--Yuen2017 G
PHF3     2-0109-003chr6:
64400474-64400474
CCTintronicDe novo--Yuen2017 G
PHF3     AU3846302chr6:
64366595-64366595
GCintronicDe novo--Yuen2017 G
PHF3     1-0629-003chr6:
64357297-64357297
TGintronicDe novo--Yuen2017 G
PHF3     AU1995302chr6:
64376667-64376667
TCintronicDe novo--Yuen2017 G
PHF3     14110.p1chr6:
64423242-64423242
CTexonicDe novononsynonymous SNVNM_015153
NM_001290259
c.C5758T
c.C5494T
p.R1920C
p.R1832C
11.852.0E-4Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Source Variant Information

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Paper alias:

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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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