Variant Results

or

Results for "ARNTL"

Variant Events: 21

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

ARNTL

AU2123301

chr11:
13379288-13379288

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNTL

5-0055-004

chr11:
13332128-13332128

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNTL

20618-32410

chr11:
13387084-13387084

G

A

exonic

Inherited

nonsynonymous SNV

NM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724

c.G497A
c.G497A
c.G368A
c.G497A
c.G497A
c.G368A

p.R166Q
p.R166Q
p.R123Q
p.R166Q
p.R166Q
p.R123Q

36.0

-

Callaghan2019 G

ARNTL

1-0255-003

chr11:
13374133-13374133

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

ARNTL

mAGRE1121

chr11:
13387083-13387083

C

T

exonic

Maternal

stopgain

NM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724

c.C496T
c.C496T
c.C367T
c.C496T
c.C496T
c.C367T

p.R166X
p.R166X
p.R123X
p.R166X
p.R166X
p.R123X

41.0

-

Cirnigliaro2023 G

ARNTL

REACH000689

chr11:
13402704-13402704

A

C

intronic

De novo

-

Trost2022 G
Zhou2022 GE

ARNTL

AU061104

chr11:
13345433-13345433

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNTL

2-1093-005

chr11:
13310258-13310258

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARNTL

iHART1121

chr11:
13387083-13387083

C

T

exonic

Maternal

stopgain

NM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724

c.C496T
c.C496T
c.C367T
c.C496T
c.C496T
c.C367T

p.R166X
p.R166X
p.R123X
p.R166X
p.R166X
p.R123X

41.0

-

Ruzzo2019 G

ARNTL

MSSNG00427-003

chr11:
13359267-13359267

T

G

intronic

De novo

-

Trost2022 G

ARNTL

AU055603

chr11:
13369583-13369583

A

G

intronic

De novo

-

Trost2022 G

ARNTL

3-0405-000

chr11:
13346282-13346282

G

T

intronic

De novo

-

Trost2022 G

ARNTL

5-2015-003

chr11:
13349575-13349575

A

T

intronic

De novo

-

Trost2022 G

ARNTL

AU2288301

chr11:
13340054-13340054

T

G

intronic

De novo

-

Trost2022 G

ARNTL

5-5175-003

chr11:
13345244-13345244

A

G

intronic

De novo

-

Trost2022 G

ARNTL

AU4263304

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724
NM_001030272
NM_001297722
NM_001030273
NM_001178
NM_001297719
NM_001297724

c.1431dupC
c.1434dupC
c.1302dupC
c.1431dupC
c.1434dupC
c.1305dupC
c.1434dupC
c.1437dupC
c.1305dupC
c.1434dupC
c.1437dupC
c.1308dupC

p.H477fs
p.H478fs
p.H434fs
p.H477fs
p.H478fs
p.H435fs
p.P478fs
p.P479fs
p.P435fs
p.P478fs
p.P479fs
p.P436fs

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ARNTL

1-0896-003

chr11:
13302594-13302594

C

CT

intronic

De novo

-

Trost2022 G

ARNTL

4-0008-003

chr11:
13333721-13333721

T

C

intronic

De novo

-

Trost2022 G

ARNTL

4-0062-003

chr11:
13406379-13406380

AT

TA

intronic

De novo

-

Trost2022 G

ARNTL

7-0408-003

chr11:
13389728-13389728

T

C

intronic

De novo

-

Trost2022 G

ARNTL

MSSNG00204-003

chr11:
13396129-13396129

T

C

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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