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Results for "GRK5"

Variant Events: 36

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
GRK5     2-1363-003chr10:
121053723-121053723
GCintronicDe novo--Yuen2016 G
Yuen2017 G
GRK5     AU4015301chr10:
121126108-121126108
GAintronicDe novo--Trost2022 G
Yuen2017 G
GRK5     CC1123.202chr10:
121203193-121203193
CTexonicDe novononsynonymous SNVNM_005308c.C1195Tp.R399C21.0-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
GRK5     2-1514-003chr10:
121039585-121039585
ATintronicDe novo--Trost2022 G
Yuen2017 G
GRK5     SP0018517chr10:
121199213-121199213
CCACTTintronicDe novo--Fu2022 E
Trost2022 G
GRK5     AU2075302chr10:
121050708-121050708
GAintronicDe novo--Trost2022 G
Yuen2017 G
GRK5     1-1038-003chr10:
121072523-121072523
GCintronicDe novo--Trost2022 G
GRK5     1-0054-004chr10:
121225844-121225844
TTCTCCintergenicDe novo--Yuen2017 G
GRK5     2-0116-004chr10:
121032543-121032543
CTintronicDe novo--Trost2022 G
Yuen2017 G
GRK5     3-0391-000chr10:
121072760-121072760
GAintronicDe novo--Trost2022 G
GRK5     1-0217-003chr10:
121048333-121048333
GAintronicDe novo--Trost2022 G
GRK5     REACH000341chr10:
121051595-121051595
CTintronicDe novo--Trost2022 G
GRK5     REACH000644chr10:
121008804-121008804
CAintronicDe novo--Trost2022 G
GRK5     5-5024-003chr10:
121046909-121046909
AGintronicDe novo--Trost2022 G
GRK5     3-0193-000chr10:
120974187-120974187
AGintronicDe novo--Trost2022 G
GRK5     REACH000078chr10:
121008804-121008804
CAintronicDe novo--Trost2022 G
GRK5     7-0321-003Achr10:
121207874-121207874
TCintronicDe novo--Trost2022 G
GRK5     14051.p1chr10:
121212266-121212266
CTexonicMosaicsynonymous SNVNM_005308c.C1488Tp.D496D-2.0E-4Dou2017 E
GRK5     12798.p1chr10:
121234176-121234176
CGintergenicDe novo--Werling2018 G
GRK5     MT_186.3chr10:
121190159-121190159
GAintronicDe novo--Trost2022 G
GRK5     5-5129-003chr10:
121191842-121191842
CTintronicDe novo--Trost2022 G
GRK5     1-1040-003chr10:
121153719-121153719
TCintronicDe novo--Trost2022 G
GRK5     14-547chr10:
121178127-121178127
TCintronicDe novo--Trost2022 G
GRK5     5-5129-003chr10:
121092999-121092999
CTintronicDe novo--Trost2022 G
GRK5     3-0143-001chr10:
121104863-121104863
CTintronicDe novo--Trost2022 G
GRK5     AU0638302chr10:
120967434-120967434
ATexonicDe novononsynonymous SNVNM_005308c.A5Tp.E2V17.41-Trost2022 G
Yuen2017 G
Zhou2022 GE
GRK5     2-0012-003chr10:
121153606-121153606
TTGGintronicDe novo--Yuen2017 G
GRK5     2-0305-004chr10:
121046721-121046721
AAGAAGAAGintronicDe novo--Yuen2017 G
GRK5     AU3649305chr10:
120976728-120976728
TGintronicDe novo--Trost2022 G
Yuen2017 G
GRK5     5-0068-003chr10:
121212685-121212685
TGexonicDe novononsynonymous SNVNM_005308c.T1571Gp.L524R25.78.238E-6Trost2022 G
Zhou2022 GE
GRK5     CC1123_202chr10:
121203193-121203193
CTexonicDe novononsynonymous SNVNM_005308c.C1195Tp.R399C21.0-Fu2022 E
GRK5     1-0973-003chr10:
121167407-121167407
GAintronicDe novo--Trost2022 G
Yuen2017 G
GRK5     2-0129-004chr10:
121153962-121153962
GGTintronicDe novo--Yuen2017 G
GRK5     2-1451-004chr10:
121250360-121250360
CTintergenicDe novo--Yuen2017 G
GRK5     1-0092-003chr10:
121153581-121153581
CGintronicDe novo--Yuen2017 G
GRK5     2-1195-003chr10:
120974228-120974228
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
Source Variant Information

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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
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