Variant Results

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Results for "CNGA3"

Variant Events: 24

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

CNGA3

2-0289-003

chr2:
98993616-98993616

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CNGA3

iHART1157

chr2:
98986540-98986540

G

A

splicing

Maternal

splicing

8.273

Ruzzo2019 G

CNGA3

Wang2023:90

chr2:
99013585-99013585

A

G

exonic

De novo

nonsynonymous SNV

NM_001079878
NM_001298

c.A1898G
c.A1952G

p.Y633C
p.Y651C

16.14

-

Wang2023 E

CNGA3

AU180A

chr2:
99006180-99006180

G

A

exonic

De novo

nonsynonymous SNV

NM_001079878
NM_001298

c.G455A
c.G509A

p.R152H
p.R170H

11.83

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CNGA3

SP0003632

chr2:
99013490-99013490

G

A

exonic

De novo

synonymous SNV

NM_001079878
NM_001298

c.G1803A
c.G1857A

p.A601A
p.A619A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CNGA3

MT_154.3

chr2:
98962484-98962487

AAGG

A

upstream

De novo

-

-

Trost2022 G

CNGA3

13047.p1

chr2:
99006270-99006270

G

C

intronic

De novo

-

-

Satterstrom2020 E

CNGA3

2-0098-003

chr2:
99021299-99021299

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

CNGA3

iHART1295

chr2:
99006120-99006120

G

A

splicing

Paternal

splicing

16.15

Ruzzo2019 G

CNGA3

SP0014690

chr2:
99012485-99012485

C

G

exonic

De novo

synonymous SNV

NM_001079878
NM_001298

c.C798G
c.C852G

p.L266L
p.L284L

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

CNGA3

MSSNG00025-003

chr2:
99014606-99014606

A

G

UTR3

De novo

-

-

Trost2022 G

CNGA3

mAGRE1295

chr2:
99006120-99006120

G

A

splicing

Paternal

splicing

16.15

Cirnigliaro2023 G

CNGA3

mAGRE4662

chr2:
98986540-98986540

G

A

splicing

Maternal

splicing

8.273

Cirnigliaro2023 G

CNGA3

SSC09117

chr2:
99006270-99006270

G

C

intronic

De novo

-

-

Trost2022 G

CNGA3

mAGRE4234

chr2:
98986540-98986540

G

A

splicing

Paternal

splicing

8.273

Cirnigliaro2023 G

CNGA3

MSSNG00358-004

chr2:
99013371-99013371

T

C

exonic

De novo

nonsynonymous SNV

NM_001079878
NM_001298

c.T1684C
c.T1738C

p.S562P
p.S580P

15.72

-

Trost2022 G

CNGA3

mAGRE1157

chr2:
98986540-98986540

G

A

splicing

Maternal

splicing

8.273

Cirnigliaro2023 G

CNGA3

5-5007-003

chr2:
98968615-98968615

T

C

intronic

De novo

-

-

Trost2022 G

CNGA3

REACH000644

chr2:
98988590-98988590

C

A

intronic

De novo

-

-

Trost2022 G

CNGA3

1-0554-003

chr2:
99059175-99059175

A

G

intergenic

De novo

-

-

Yuen2017 G

CNGA3

4-0102-003

chr2:
98965052-98965052

C

T

intronic

De novo

-

-

Trost2022 G

CNGA3

2-0289-004

chr2:
98993616-98993616

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

CNGA3

4-0102-003

chr2:
98965524-98965524

G

A

intronic

De novo

-

-

Trost2022 G

CNGA3

2-1186-003

chr2:
98978961-98978962

TG

T

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
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