Variant Results

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Results for "PER2"

Variant Events: 15

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

PER2

AU3634301

chr2:
239177974-239177981

ACACTCAC

ACAC

intronic

De novo

-

-

Yuen2017 G

PER2

68560

chr2:
239161576-239161576

G

A

exonic

De novo

stopgain

NM_022817

c.C3088T

p.Q1030X

41.0

-

Fu2022 E

PER2

SP0117644

chr2:
239162250-239162250

C

T

exonic

De novo

nonsynonymous SNV

NM_022817

c.G2414A

p.R805Q

1.606

Fu2022 E

PER2

11355.p1

chr2:
239161576-239161576

G

A

exonic

De novo

stopgain

NM_022817

c.C3088T

p.Q1030X

41.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

PER2

AU3399303

chr2:
239177974-239177981

ACACTCAC

ACAC

intronic

De novo

-

-

Yuen2017 G

PER2

08C76615

chr2:
239165717-239165717

C

T

exonic

De novo

synonymous SNV

NM_022817

c.G1911A

p.P637P

-

Fu2022 E
Satterstrom2020 E

PER2

DEASD_0193_002

chr2:
239171728-239171728

T

C

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E

PER2

SP0089892

chr2:
239170482-239170482

C

T

intronic

De novo

-

Fu2022 E

PER2

2-1152-003

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_022817
NM_022817

c.1153_1153del
c.1151_1152del

p.I385fs
p.K384fs

-

-

Yuen2016 G
Yuen2017 G

PER2

2-1366-003

chr2:
239183019-239183019

G

T

intronic

De novo

-

-

Yuen2017 G

PER2

1-0045-004

chr2:
239180643-239180643

A

G

intronic

De novo

-

-

Yuen2017 G

PER2

1-0339-003

chr2:
239164427-239164427

C

T

exonic

De novo

nonsynonymous SNV

NM_022817

c.G2191A

p.A731T

16.31

-

Yuen2015 G
Yuen2017 G

PER2

iHART3065

chr2:
239180129-239180130

AG

A

exonic

Paternal

frameshift deletion

NM_022817

c.595delC

p.L199fs

-

-

Ruzzo2019 G

PER2

7-0058-003

chr2:
239170770-239170770

G

A

intronic

De novo

-

-

Yuen2017 G

PER2

SSC02675

chr2:
239161576-239161576

G

A

exonic

stopgain

NM_022817

c.C3088T

p.Q1030X

41.0

-

Antaki2022 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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