Variant Results

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Results for "PDE6B"

Variant Events: 12

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

PDE6B

2-0129-004

chr4:
657236-657236

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

PDE6B

iHART1339

chr4:
663834-663834

G

C

splicing

Paternal

splicing

9.491

Ruzzo2019 G

PDE6B

1-0664-003A

chr4:
665209-665209

G

A

downstream

De novo

-

-

Trost2022 G

PDE6B

SP0073323

chr4:
647136-647136

A

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

PDE6B

AGG0016

chr4:
655880-655881

AC

A

intronic

De novo

-

-

Satterstrom2020 E
Trost2022 G

PDE6B

2-0323-004

chr4:
654732-654732

A

G

intronic

De novo

-

-

Yuen2017 G

PDE6B

13867.p1

chr4:
652788-652788

C

T

exonic

Mosaic

synonymous SNV

NM_001145292
NM_000283
NM_001145291

c.C612T
c.C1449T
c.C1449T

p.D204D
p.D483D
p.D483D

-

Krupp2017 E

PDE6B

mAGRE1339

chr4:
663834-663834

G

C

splicing

Paternal

splicing

9.491

Cirnigliaro2023 G

PDE6B

1-0272-003

chr4:
648626-648629

ACAA

GCTTCTC

exonic

De novo

nonframeshift substitution

NM_001145292
NM_000283
NM_001145291

c.104_107GCTTCTC
c.941_944GCTTCTC
c.941_944GCTTCTC

N/A
N/A
N/A

-

-

Trost2022 G

PDE6B

SP0063629

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

PDE6B

09C89846

chr4:
651299-651299

A

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

PDE6B

4176_18au

chr4:
647913-647913

G

A

exonic

De novo

synonymous SNV

NM_001145292
NM_000283
NM_001145291

c.G60A
c.G897A
c.G897A

p.P20P
p.P299P
p.P299P

-

Fu2022 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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