Variant Results

or

Results for "CNGB3"

Variant Events: 31

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

CNGB3

AU039305

chr8:
87636929-87636929

G

A

intronic

De novo

-

Yuen2017 G

CNGB3

DEASD_0057_001

chr8:
87680403-87680403

A

AG

intronic

De novo

-

9.311E-5

Kosmicki2017 E

CNGB3

AU3637301

chr8:
87753952-87753952

A

G

intronic

De novo

-

Yuen2017 G

CNGB3

PN400514

chr8:
87645092-87645092

C

T

exonic

Unknown

nonsynonymous SNV

NM_019098

c.G1208A

p.R403Q

22.5

0.0051

Leblond2019 E

CNGB3

7-0255-003

chr8:
87762884-87762884

G

A

intergenic

De novo

-

Yuen2017 G

CNGB3

2-1501-003

chr8:
87844650-87844650

A

G

intergenic

De novo

-

Yuen2017 G

CNGB3

AU3632301

chr8:
87847413-87847413

T

G

intergenic

De novo

-

Yuen2017 G

CNGB3

DEASD_0290_001

chr8:
87588114-87588114

G

T

exonic

De novo

stopgain

NM_019098

c.C2348A

p.S783X

38.0

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CNGB3

7-0123-003

chr8:
87738866-87738866

A

G

exonic

De novo

synonymous SNV

NM_019098

c.T231C

p.N77N

-

Yuen2017 G

CNGB3

1-0874-003

chr8:
87670683-87670683

C

A

intronic

De novo

-

Yuen2017 G

CNGB3

13639.p1

chr8:
87679119-87679119

G

A

intronic

De novo

-

7.0E-4

Satterstrom2020 E

CNGB3

7-0251-003

chr8:
87623887-87623887

G

T

exonic

De novo

nonsynonymous SNV

NM_019098

c.C1591A

p.Q531K

27.6

-

Yuen2017 G

CNGB3

AU3997301

chr8:
87795382-87795382

A

G

intergenic

De novo

-

Yuen2017 G

CNGB3

AU3905302

chr8:
87845542-87845542

C

T

intergenic

De novo

-

Yuen2017 G

CNGB3

A17

chr8:
87736122-87736122

C

A

intronic

De novo

-

Wu2018 G

CNGB3

1-0826-003

chr8:
87672709-87672709

G

A

intronic

De novo

-

Yuen2017 G

CNGB3

AU4072303

chr8:
87818922-87818922

C

A

intergenic

De novo

-

Yuen2017 G

CNGB3

AU3862305

chr8:
87824347-87824347

G

A

intergenic

De novo

-

Yuen2017 G

CNGB3

1-0715-003

chr8:
87610142-87610142

G

T

intronic

De novo

-

Yuen2017 G

CNGB3

AU4485302

chr8:
87840361-87840361

C

T

intergenic

De novo

-

Yuen2017 G

CNGB3

PN400179

chr8:
87645092-87645092

C

T

exonic

Unknown

nonsynonymous SNV

NM_019098

c.G1208A

p.R403Q

22.5

0.0051

Leblond2019 E

CNGB3

iHART2259

chr8:
87666245-87666250

ATTTTG

A

exonic

Paternal

frameshift deletion

NM_019098

c.893_897del

p.T298fs

-

6.603E-5

Ruzzo2019 G

CNGB3

2-1605-004

chr8:
87858769-87858777

TAATATCAA

T

intergenic

De novo

-

Yuen2017 G

CNGB3

iHART1327

chr8:
87590934-87590934

G

A

exonic

Paternal

stopgain

NM_019098

c.C2086T

p.R696X

28.1

4.0E-4

Ruzzo2019 G

CNGB3

1-0450-003

chr8:
87843034-87843034

G

C

intergenic

De novo

-

Yuen2017 G

CNGB3

PN400186

chr8:
87645092-87645092

C

T

exonic

Unknown

nonsynonymous SNV

NM_019098

c.G1208A

p.R403Q

22.5

0.0051

Leblond2019 E

CNGB3

AU2075301

chr8:
87818554-87818586

AACCAAAACAGCATGCTACTGGTACCAAAACAG

AACCAAAACAGCATGCTACTGGTACCAAAACAGCATGCTACTGGTACCAAAACAG

intergenic

De novo

-

Yuen2017 G

CNGB3

12056.p1

chr8:
87673711-87673711

C

T

intronic

Mosaic

-

Dou2017 E

CNGB3

2-1128-003

chr8:
87853384-87853384

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CNGB3

1-0233-004

chr8:
87697075-87697075

A

G

intronic

De novo

-

Yuen2017 G

CNGB3

SSC08756

chr8:
87588291-87588291

T

A

exonic

Mosaic

nonsynonymous SNV

NM_019098

c.A2171T

p.E724V

2.232

-

Lim2017 E

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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