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Results for "PHRF1"

Variant Events: 6

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
PHRF1     AU0146302chr11:
605548-605548
GAintronicDe novo--Yuen2017 G
PHRF1     12766.p1chr11:
609564-609564
GAexonicDe novononsynonymous SNVNM_001286581
NM_001286582
NM_001286583
NM_020901
c.G4108A
c.G4102A
c.G4096A
c.G4105A
p.D1370N
p.D1368N
p.D1366N
p.D1369N
18.671.562E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PHRF1     12341.p1chr11:
610966-610966
CGexonicMosaic, De novononsynonymous SNVNM_001286581
NM_001286582
NM_001286583
NM_020901
c.C4690G
c.C4684G
c.C4678G
c.C4687G
p.L1564V
p.L1562V
p.L1560V
p.L1563V
16.18-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
PHRF1     AU106Achr11:
609438-609438
GAexonicDe novononsynonymous SNVNM_001286581
NM_001286582
NM_001286583
NM_020901
c.G3982A
c.G3976A
c.G3970A
c.G3979A
p.D1328N
p.D1326N
p.D1324N
p.D1327N
14.89-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
PHRF1     SSC05826chr11:
609564-609564
GAexonicDe novononsynonymous SNVNM_001286581
NM_001286582
NM_001286583
NM_020901
c.G4108A
c.G4102A
c.G4096A
c.G4105A
p.D1370N
p.D1368N
p.D1366N
p.D1369N
18.671.562E-5Lim2017 E
PHRF1     3B331chr11:
608435-608435
CGexonicDe novosynonymous SNVNM_001286581
NM_001286582
NM_001286583
NM_020901
c.C2979G
c.C2973G
c.C2967G
c.C2976G
p.S993S
p.S991S
p.S989S
p.S992S
--Satterstrom2020 E
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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