Variant Results

or

or

Results for "CRY1"

Variant Events: 28

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

CRY1

2-1645-003

chr12:
107565096-107565096

T

G

intergenic

De novo

-

-

Yuen2017 G

CRY1

2-0296-004

chr12:
107681875-107681875

C

T

intergenic

De novo

-

-

Yuen2017 G

CRY1

345-05-104725

chr12:
107395700-107395700

G

A

exonic

De novo

nonsynonymous SNV

NM_004075

c.C437T

p.P146L

17.99

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CRY1

7-0106-003

chr12:
107418356-107418356

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CRY1

12175.p1

chr12:
107434712-107434712

G

A

intronic

De novo

-

-

Turner2016 G

CRY1

AU2433302

chr12:
107415513-107415513

T

C

intronic

De novo

-

-

Yuen2017 G

CRY1

AU003405

chr12:
107623226-107623226

C

T

intergenic

De novo

-

-

Yuen2017 G

CRY1

AU2433302

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

CRY1

AU4467302

chr12:
107399459-107399459

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CRY1

mAGRE4795

chr12:
107415904-107415908

CACAA

C

exonic

Maternal

frameshift deletion

NM_004075

c.221_224del

p.F74fs

-

-

Cirnigliaro2023 G

CRY1

1-0300-004

chr12:
107403329-107403329

A

AAAAC

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CRY1

AU4372309

chr12:
107487743-107487743

C

G

upstream

De novo

-

-

Trost2022 G
Yuen2017 G

CRY1

2-1346-003

chr12:
107577041-107577041

T

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CRY1

AU2139301

chr12:
107647961-107647961

C

T

intergenic

De novo

-

-

Yuen2017 G

CRY1

3-0385-000

chr12:
107415727-107415728

GA

G

intronic

De novo

-

-

Trost2022 G

CRY1

1-0358-003

chr12:
107411696-107411696

C

G

intronic

De novo

-

-

Yuen2017 G

CRY1

AU4479301

chr12:
107659629-107659629

C

T

intergenic

De novo

-

-

Yuen2017 G

CRY1

1-1137-003

chr12:
107449968-107449968

A

C

intronic

De novo

-

-

Trost2022 G

CRY1

7-0095-004

chr12:
107394939-107394940

CA

TT

intronic

De novo

-

-

Trost2022 G

CRY1

3-0199-000

chr12:
107401902-107401902

T

C

intronic

De novo

-

-

Trost2022 G

CRY1

2-0088-003

chr12:
107533188-107533188

C

T

intergenic

De novo

-

-

Yuen2017 G

CRY1

7-0100-004

chr12:
107691497-107691497

G

A

intergenic

De novo

-

-

Yuen2017 G

CRY1

2-1454-003

chr12:
107674807-107674831

CATTTATTTATTTATTTATTTATTT

CATTTATTTATTTATTTATTT

intergenic

De novo

-

-

Yuen2017 G

CRY1

SP0073056

chr12:
107486547-107486547

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

CRY1

SP0061590

chr12:
107486595-107486595

T

A

exonic

De novo

nonsynonymous SNV

NM_004075

c.A145T

p.I49F

18.51

-

Trost2022 G

CRY1

Al-Mubarak2017:ASD-17

chr12:
107399022-107399022

C

T

exonic

Unknown

stopgain

NM_004075

c.G272A

p.W91X

45.0

-

Al-Mubarak2017 E

CRY1

2-1093-005

chr12:
107459097-107459097

G

C

intronic

De novo

-

-

Trost2022 G

CRY1

1-1167-003

chr12:
107485551-107485551

G

A

intronic

De novo

-

-

Trost2022 G

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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