Variant Results

or

or

Results for "ARRB1"

Variant Events: 17

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

ARRB1

2-1195-003

chr11:
75008173-75008173

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

ARRB1

JASD_Fam0039

chr11:
74994486-74994486

C

A

exonic

De novo

nonsynonymous SNV

NM_004041
NM_020251

c.G199T
c.G199T

p.D67Y
p.D67Y

24.9

-

Takata2018 E

ARRB1

AU2022302

chr11:
75084756-75084756

G

A

intergenic

De novo

-

-

Yuen2017 G

ARRB1

A26

chr11:
75026483-75026483

G

A

intronic

De novo

-

-

Wu2018 G

ARRB1

AU3915301

chr11:
74972133-74972133

G

C

UTR3

De novo

-

-

Yuen2017 G

ARRB1

7-0188-003

chr11:
75108112-75108112

G

A

intergenic

De novo

-

-

Yuen2017 G

ARRB1

3-0140-000

chr11:
75097396-75097396

C

T

intergenic

De novo

-

-

Yuen2017 G

ARRB1

SP0098610

chr11:
75001066-75001066

C

G

exonic

De novo

nonsynonymous SNV

NM_004041
NM_020251

c.G38C
c.G38C

p.S13T
p.S13T

15.99

-

Fu2022 E

ARRB1

SP0078409

chr11:
75017653-75017653

G

A

intronic

De novo

-

-

Fu2022 E

ARRB1

SP0022233

chr11:
75000993-75000993

A

C

intronic

De novo

-

-

Fu2022 E

ARRB1

2-0272-004

chr11:
74985806-74985806

A

ACTGCTCCCAGGCACTCCACT

intronic

De novo

-

-

Yuen2017 G

ARRB1

G01-GEA-68-HI

chr11:
74978733-74978733

T

A

exonic

De novo

nonsynonymous SNV

NM_020251
NM_004041

c.A1084T
c.A1108T

p.T362S
p.T370S

8.021

Fu2022 E
Satterstrom2020 E

ARRB1

AU2427303

chr11:
74991675-74991675

T

G

intronic

De novo

-

-

Yuen2017 G

ARRB1

AU076704

chr11:
74994156-74994156

C

A

intronic

De novo

-

-

Yuen2017 G

ARRB1

1-0201-004

chr11:
75074449-75074449

G

A

intergenic

De novo

-

-

Yuen2017 G

ARRB1

08C78749

chr11:
74988542-74988542

T

C

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E

ARRB1

2-1335-004

chr11:
74985801-74985801

A

ACTGGGAGATTG

intronic

De novo

-

-

Yuen2017 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
	More