or
or
Exact

Results for "PRKG1"

Variant Events: 58

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
PRKG1     12493.p1chr10:
53231563-53231563
AGintronicDe novo--Turner2016 G
PRKG1     AU3900301chr10:
53021565-53021565
AGintronicDe novo--Yuen2017 G
PRKG1     13874.p1chr10:
53523132-53523132
CTintronicDe novo--Turner2016 G
PRKG1     1-0473-003chr10:
52933555-52933555
CAintronicDe novo--Yuen2017 G
PRKG1     AU4462302chr10:
53964197-53964197
GAintronicDe novo--Yuen2017 G
PRKG1     1-1004-003chr10:
53953510-53953510
TCintronicDe novo--Yuen2017 G
PRKG1     2-1360-003chr10:
52899801-52899801
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PRKG1     1-0353-003chr10:
52858548-52858548
CTintronicDe novo--Yuen2017 G
PRKG1     5-0025-004chr10:
53340805-53340805
AGintronicDe novo--Yuen2017 G
PRKG1     7-0174-003chr10:
52997125-52997125
CTintronicDe novo--Yuen2017 G
PRKG1     1-0552-003chr10:
52983528-52983528
TCintronicDe novo--Yuen2017 G
PRKG1     AU2792301chr10:
53101175-53101175
TCintronicDe novo--Yuen2017 G
PRKG1     2-1152-003chr10:
53928619-53928619
GAintronicDe novo--Yuen2016 G
Yuen2017 G
PRKG1     2-1107-003chr10:
52750466-52750466
AGupstreamDe novo--Yuen2017 G
PRKG1     2-1277-004chr10:
52986130-52986130
TGintronicDe novo--Yuen2017 G
PRKG1     AU045514chr10:
53242694-53242694
GAintronicDe novo--Yuen2017 G
PRKG1     A31chr10:
53428890-53428890
TCintronicDe novo--Wu2018 G
PRKG1     1-0417-003chr10:
53209467-53209467
CGintronicDe novo--Yuen2017 G
PRKG1     AU1933301chr10:
53832416-53832416
AGintronicDe novo--Yuen2017 G
PRKG1     1-0572-003chr10:
53511710-53511710
TCintronicDe novo--Yuen2017 G
PRKG1     AU3760302chr10:
53461147-53461147
CTintronicDe novo--Yuen2017 G
PRKG1     2-0296-003chr10:
53684929-53684945
AATTGAAGTGGAGAGGTAintronicDe novo--Yuen2017 G
PRKG1     7-0167-003chr10:
53684233-53684233
GAintronicDe novo--Yuen2017 G
PRKG1     1-0278-003chr10:
54029973-54029973
GTintronicDe novo--Yuen2016 G
PRKG1     2-0198-005chr10:
53480749-53480749
TCintronicDe novo--Yuen2017 G
PRKG1     AU3790301chr10:
53081892-53081892
GTintronicDe novo--Yuen2017 G
PRKG1     7-0058-003chr10:
53033494-53033494
AGintronicDe novo--Yuen2017 G
PRKG1     2-1306-003chr10:
53202574-53202574
AGintronicDe novo--Yuen2017 G
PRKG1     1-0638-003chr10:
52988352-52988364
AAGAGAGAGAGAGAAGAGAGAGAGintronicDe novo--Yuen2017 G
PRKG1     1-0214-003chr10:
52916794-52916797
TTAATintronicDe novo--Yuen2017 G
PRKG1     AU4444304chr10:
53369786-53369786
TCintronicDe novo--Yuen2017 G
PRKG1     1-0522-003chr10:
53451585-53451585
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PRKG1     2-1549-003chr10:
53241252-53241252
GAintronicDe novo--Yuen2017 G
PRKG1     1-0214-003chr10:
53991179-53991212
AAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
PRKG1     AU024606chr10:
52924428-52924428
TCintronicDe novo--Yuen2017 G
PRKG1     AU079104chr10:
53885068-53885068
CGintronicDe novo--Yuen2017 G
PRKG1     1-0403-003chr10:
53602044-53602044
AGintronicDe novo--Yuen2017 G
PRKG1     2-1620-003chr10:
53943256-53943256
CGintronicDe novo--Yuen2017 G
PRKG1     AU2793303chr10:
53422830-53422830
ATintronicDe novo--Yuen2017 G
PRKG1     iHART2211chr10:
54053651-54053651
AAGACTTCTAATexonicMaternalstopgainNM_001098512
NM_006258
c.2007_2008insGACTTCTAAT
c.2052_2053insGACTTCTAAT
p.I669_D670delinsIDFX
p.I684_D685delinsIDFX
--Ruzzo2019 G
PRKG1     1-0534-004chr10:
53758003-53758003
CAintronicDe novo--Yuen2017 G
PRKG1     2-1702-004chr10:
53862382-53862390
AGGGGTTTCAintronicDe novo--Yuen2017 G
PRKG1     5-0041-003chr10:
53705835-53705835
CTintronicDe novo--Yuen2017 G
PRKG1     1-0674-004chr10:
53845259-53845259
GAintronicDe novo--Yuen2017 G
PRKG1     AU4260303chr10:
53076760-53076760
TCintronicDe novo--Yuen2017 G
PRKG1     AU3911302chr10:
53050661-53050661
AGintronicDe novo--Yuen2017 G
PRKG1     3-0447-000chr10:
53786255-53786255
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PRKG1     5-0129-003chr10:
53410687-53410687
CTintronicDe novo--Yuen2017 G
PRKG1     AU015903chr10:
53228875-53228875
AGintronicDe novo--Yuen2017 G
PRKG1     2-0210-004chr10:
53788010-53788010
AGintronicDe novo--Yuen2017 G
PRKG1     AU017704chr10:
53120757-53120757
GAintronicDe novo--Yuen2017 G
PRKG1     2-0278-003chr10:
53424657-53424657
CTintronicDe novo--Yuen2017 G
PRKG1     AU3716302chr10:
52955056-52955056
GAintronicDe novo--Yuen2017 G
PRKG1     2-1207-003chr10:
53437083-53437083
CTintronicDe novo--Yuen2016 G
Yuen2017 G
PRKG1     AU045010chr10:
53017857-53017857
AGintronicDe novo--Yuen2017 G
PRKG1     74-0115chr10:
53628990-53628990
TCintronicDe novo--Michaelson2012 G
PRKG1     AU3811301chr10:
53508612-53508612
CTintronicDe novo--Yuen2017 G
PRKG1     AU1725302chr10:
53473900-53473900
CGintronicDe 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 notesView
More