Variant Results

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Results for "PER1"

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

PER1

AU1829303

chr17:
8047150-8047150

G

A

exonic

De novo

stopgain

NM_002616

c.C2506T

p.R836X

40.0

-

Fu2022 E
Satterstrom2020 E

PER1

SP0034819

chr17:
8044395-8044395

G

A

exonic

De novo

synonymous SNV

NM_002616

c.C3864T

p.C1288C

-

-

Fu2022 E

PER1

SP0029798

chr17:
8044335-8044335

T

C

UTR3

De novo

-

Fu2022 E

PER1

Li2017:23124

chr17:
8048072-8048072

G

A

exonic

Unknown

stopgain

NM_002616

c.C2458T

p.R820X

41.0

-

Li2017 T

PER1

A32

chr17:
8054532-8054532

C

T

intronic

De novo

-

-

Wu2018 G

PER1

G01-GEA-1-HI

chr17:
8045687-8045714

GCTCAGCCCCGCCCCGAGCAGCCCCAGC

G

exonic

De novo

nonframeshift deletion

NM_002616

c.3322_3348del

p.1108_1116del

-

Satterstrom2020 E

PER1

iHART2559

chr17:
8047150-8047150

G

A

exonic

De novo

stopgain

NM_002616

c.C2506T

p.R836X

40.0

-

Ruzzo2019 G

PER1

Li2017:16073

chr17:
8051512-8051512

C

T

exonic

Unknown

nonsynonymous SNV

NM_002616

c.G1114A

p.D372N

33.0

Li2017 T

PER1

AU1987301

chr17:
8058872-8058872

A

G

intergenic

De novo

-

-

Yuen2017 G

PER1

Li2017:16274

chr17:
8053793-8053793

C

A

exonic

Unknown

nonsynonymous SNV

NM_002616

c.G232T

p.G78C

23.3

Li2017 T

PER1

1360JS0033

chr17:
8044457-8044457

T

C

exonic

De novo

nonsynonymous SNV

NM_002616

c.A3802G

p.M1268V

8.072

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

PER1

Li2017:20644

chr17:
8053364-8053364

C

G

exonic

Unknown

nonsynonymous SNV

NM_002616

c.G454C

p.E152Q

19.53

-

Li2017 T

PER1

10C108663

chr17:
8044457-8044457

T

C

exonic

De novo

nonsynonymous SNV

NM_002616

c.A3802G

p.M1268V

8.072

-

Neale2012 E

PER1

Li2017:23778

chr17:
8047053-8047054

CA

C

exonic

Unknown

frameshift deletion

NM_002616

c.2602delT

p.W868fs

-

-

Li2017 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 notes	View
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