Variant Results

or

Results for "PHRF1"

Variant Events: 11

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

SP0037987

chr11:
605631-605631

T

C

exonic

De novo

nonsynonymous SNV

NM_001286581
NM_001286582
NM_001286583
NM_020901

c.T1361C
c.T1355C
c.T1349C
c.T1358C

p.L454P
p.L452P
p.L450P
p.L453P

12.04

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PHRF1

SP0107844

chr11:
610189-610189

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PHRF1

12766.p1

chr11:
609564-609564

G

A

exonic

De novo

nonsynonymous SNV

NM_001286581
NM_001286582
NM_001286583
NM_020901

c.G4108A
c.G4102A
c.G4096A
c.G4105A

p.D1370N
p.D1368N
p.D1366N
p.D1369N

18.67

1.562E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PHRF1

12341.p1

chr11:
610966-610966

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_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

SSC05826

chr11:
609564-609564

G

A

exonic

De novo

nonsynonymous SNV

NM_001286581
NM_001286582
NM_001286583
NM_020901

c.G4108A
c.G4102A
c.G4096A
c.G4105A

p.D1370N
p.D1368N
p.D1366N
p.D1369N

18.67

1.562E-5

Fu2022 E
Lim2017 E
Trost2022 G

PHRF1

AU0146302

chr11:
605548-605548

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PHRF1

AU3076302

chr11:
597590-597590

C

T

intronic

De novo

-

1.349E-5

Trost2022 G

PHRF1

AU106A

chr11:
609438-609438

G

A

exonic

De novo

nonsynonymous SNV

NM_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
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PHRF1

MSSNG00420-003

chr11:
580047-580047

G

T

intronic

De novo

-

Trost2022 G

PHRF1

7-0307-003

chr11:
596200-596200

G

A

intronic

De novo

-

Trost2022 G

PHRF1

3B331

chr11:
608435-608435

C

G

exonic

De novo

synonymous SNV

NM_001286581
NM_001286582
NM_001286583
NM_020901

c.C2979G
c.C2973G
c.C2967G
c.C2976G

p.S993S
p.S991S
p.S989S
p.S992S

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

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 notes	View
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