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Results for "PHF12"

Variant Events: 17

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     07C65961chr17:
27234637-27234637		CTexonicUnknownnonsynonymous SNVNM_001033561c.G2512Ap.G838R29.19.064E-5Wang2020 T
Wang2020 T
PHF12     5-0099-003chr17:
27272094-27272094		TCintronicDe novo--Yuen2017 G
PHF12     60550993chr17:
27237366-27237366		TTCexonicDe novoframeshift insertionNM_001033561
NM_001290131		c.2236dupG
c.2236dupG		p.D746fs
p.D746fs		--Wang2020 T
Wang2020 T
PHF12     219-2285-1chr17:
27237310-27237310		GAexonicUnknownnonsynonymous SNVNM_001033561
NM_001290131		c.C2293T
c.C2293T		p.R765W
p.R765W		23.58.237E-5Wang2020 T
Wang2020 T
PHF12     07C65960chr17:
27234637-27234637		CTexonicUnknownnonsynonymous SNVNM_001033561c.G2512Ap.G838R29.19.064E-5Wang2020 T
Wang2020 T
PHF12     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
Wang2020 T
PHF12     AU076705chr17:
27273570-27273570		TCintronicDe novo--Yuen2017 G
PHF12     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
Wang2020 T
PHF12     1-0113-003chr17:
27250591-27250591		GAintronicDe novo--Yuen2016 G
PHF12     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
Wang2020 T
PHF12     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
Wang2020 T
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-Satterstrom2020 E
PHF12     AU0452303chr17:
27239841-27239841		CTexonicDe 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     AU4412302chr17:
27244345-27244351		AGGGGGGAGGGGGGGexonicDe 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		--Satterstrom2020 E
PHF12     SF0033823.p1chr17:
27244345-27244345		AAGexonicDe novoframeshift insertionNM_001033561
NM_001290131
NM_020889		c.1091dupC
c.1091dupC
c.1091dupC		p.P364fs
p.P364fs
p.P364fs		--Wang2020 T
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
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