or
or
Exact

Results for "PHF12"

Variant Events: 19

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
PHF12     AU2123301chr17:
27232265-27232265
CTdownstreamDe novo--Yuen2017 G
PHF12     5-0099-003chr17:
27272094-27272094
TCintronicDe novo--Yuen2017 G
PHF12     ACGC_SD0154.p1chr17:
27246191-27246191
CTexonicUnknownstopgainNM_001033561
NM_001290131
NM_020889
c.G939A
c.G939A
c.G939A
p.W313X
p.W313X
p.W313X
45.0-Wang2020 T
PHF12     Leuven2_60550993chr17:
27237366-27237366
TTCexonicDe novoframeshift insertionNM_001033561
NM_001290131
c.2236dupG
c.2236dupG
p.D746fs
p.D746fs
--Wang2020 T
PHF12     AU076705chr17:
27273570-27273570
TCintronicDe novo--Yuen2017 G
PHF12     SP0075790chr17:
27234603-27234603
CTintronicDe novo--Fu2022 E
PHF12     1-0113-003chr17:
27250591-27250591
GAintronicDe novo--Yuen2016 G
PHF12     SF0033823.p1chr17:
27244345-27244345
AAGexonicframeshift insertionNM_001033561
NM_001290131
NM_020889
c.1091dupC
c.1091dupC
c.1091dupC
p.P364fs
p.P364fs
p.P364fs
--Wang2020 T
PHF12     SP0033823chr17:
27244345-27244345
AAGexonicDe novoframeshift insertionNM_001033561
NM_001290131
NM_020889
c.1091dupC
c.1091dupC
c.1091dupC
p.P364fs
p.P364fs
p.P364fs
--Antaki2022 GE
Fu2022 E
PHF12     1352012chr17:
27241028-27241028
GAexonicDe novostopgainNM_001033561
NM_001290131
NM_020889
c.C1162T
c.C1162T
c.C1162T
p.Q388X
p.Q388X
p.Q388X
44.0-Fu2022 E
Satterstrom2020 E
PHF12     AGRE_07C65961chr17:
27234637-27234637
CTexonicUnknownnonsynonymous SNVNM_001033561c.G2512Ap.G838R29.19.064E-5Wang2020 T
PHF12     AGRE_07C65960chr17:
27234637-27234637
CTexonicUnknownnonsynonymous SNVNM_001033561c.G2512Ap.G838R29.19.064E-5Wang2020 T
PHF12     Leuven2_60135916chr17:
27244337-27244337
CTexonicUnknownnonsynonymous SNVNM_001033561
NM_001290131
NM_020889
c.G1100A
c.G1100A
c.G1100A
p.R367H
p.R367H
p.R367H
35.01.0E-4Wang2020 T
PHF12     TASC_219-2285-1chr17:
27237310-27237310
GAexonicUnknownnonsynonymous SNVNM_001033561
NM_001290131
c.C2293T
c.C2293T
p.R765W
p.R765W
23.58.237E-5Wang2020 T
PHF12     AU0452303chr17:
27239841-27239841
CTexonicUnknown, De novononsynonymous SNVNM_001033561
NM_001290131
NM_020889
c.G1748A
c.G1748A
c.G1748A
p.R583Q
p.R583Q
p.R583Q
16.355.047E-5Wang2020 T
Yuen2017 G
PHF12     AU4412302 Complex Event; expand row to view variants  De novoframeshift insertionNM_001033561
NM_001290131
NM_020889
c.1086dupC
c.1086dupC
c.1086dupC
p.H362fs
p.H362fs
p.H362fs
--Wang2020 T
Yuen2017 G
PHF12     DEASD_1086_001chr17:
27239901-27239901
CCGexonicDe novoframeshift insertionNM_001033561
NM_001290131
NM_020889
c.1687dupC
c.1687dupC
c.1687dupC
p.R563fs
p.R563fs
p.R563fs
--Fu2022 E
Satterstrom2020 E
PHF12     ACGC_SD0339.p1chr17:
27251092-27251092
CTexonicPaternalnonsynonymous SNVNM_001033561
NM_001290131
NM_020889
c.G550A
c.G550A
c.G550A
p.D184N
p.D184N
p.D184N
32.01.651E-5Wang2020 T
PHF12     ACGC_HEN0035.p1chr17:
27244367-27244367
CTexonicUnknownnonsynonymous SNVNM_001033561
NM_001290131
NM_020889
c.G1070A
c.G1070A
c.G1070A
p.R357Q
p.R357Q
p.R357Q
37.02.473E-5Wang2020 T
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