Variant Results

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Results for "PDE6C"

Variant Events: 16

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

PDE6C

SP0034666

chr10:
95405769-95405769

C

G

exonic

nonsynonymous SNV

NM_006204

c.C1900G

p.H634D

26.1

-

Zhou2022 GE

PDE6C

mAGRE1603

chr10:
95421816-95421829

GTAGCACTTATGGT

G

exonic

Paternal

frameshift deletion

NM_006204

c.2210_2222del

p.V737fs

-

-

Cirnigliaro2023 G

PDE6C

SP0046605

chr10:
95380461-95380461

G

A

exonic

De novo

nonsynonymous SNV

NM_006204

c.G553A

p.V185M

0.005

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

PDE6C

MT_38.3

chr10:
95375918-95375918

G

A

intronic

De novo

-

-

Trost2022 G

PDE6C

MT_86.3

chr10:
95379474-95379474

C

T

intronic

De novo

-

-

Trost2022 G

PDE6C

iHART1601

chr10:
95421816-95421829

GTAGCACTTATGGT

G

exonic

Paternal

frameshift deletion

NM_006204

c.2210_2222del

p.V737fs

-

-

Ruzzo2019 G

PDE6C

iHART1603

chr10:
95421816-95421829

GTAGCACTTATGGT

G

exonic

Paternal

frameshift deletion

NM_006204

c.2210_2222del

p.V737fs

-

-

Ruzzo2019 G

PDE6C

SP0104241

chr10:
95380626-95380626

T

C

intronic

De novo

-

-

Fu2022 E

PDE6C

11984_p1

chr10:
95372793-95372793

G

A

exonic

De novo

nonsynonymous SNV

NM_006204

c.G311A

p.R104Q

33.0

Fu2022 E

PDE6C

SP0087001

chr10:
95399926-95399926

C

T

exonic

De novo

synonymous SNV

NM_006204

c.C1582T

p.L528L

-

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PDE6C

AU4219302

chr10:
95405318-95405318

T

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDE6C

SP0076619

chr10:
95399727-95399727

T

C

intronic

De novo

-

-

Fu2022 E

PDE6C

mAGRE1601

chr10:
95421816-95421829

GTAGCACTTATGGT

G

exonic

Paternal

frameshift deletion

NM_006204

c.2210_2222del

p.V737fs

-

-

Cirnigliaro2023 G

PDE6C

11984.p1

chr10:
95372793-95372793

G

A

exonic

De novo

nonsynonymous SNV

NM_006204

c.G311A

p.R104Q

33.0

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

PDE6C

MSSNG00340-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Trost2022 G

PDE6C

7-0294-003

chr10:
95421667-95421667

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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