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Results for "GRK5"

Variant Events: 18

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     AU0638302chr10:
120967434-120967434
ATexonicDe novononsynonymous SNVNM_005308c.A5Tp.E2V17.41-Yuen2017 G
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--Yuen2017 G
GRK5     AU4015301chr10:
121126108-121126108
GAintronicDe novo--Yuen2017 G
GRK5     CC1123.202chr10:
121203193-121203193
CTexonicDe novononsynonymous SNVNM_005308c.C1195Tp.R399C21.0-Satterstrom2020 E
GRK5     1-0973-003chr10:
121167407-121167407
GAintronicDe novo--Yuen2017 G
GRK5     2-0129-004chr10:
121153962-121153962
GGTintronicDe novo--Yuen2017 G
GRK5     2-1514-003chr10:
121039585-121039585
ATintronicDe novo--Yuen2017 G
GRK5     2-1451-004chr10:
121250360-121250360
CTintergenicDe novo--Yuen2017 G
GRK5     AU2075302chr10:
121050708-121050708
GAintronicDe novo--Yuen2017 G
GRK5     1-0054-004chr10:
121225844-121225844
TTCTCCintergenicDe novo--Yuen2017 G
GRK5     2-0116-004chr10:
121032543-121032543
CTintronicDe novo--Yuen2017 G
GRK5     1-0092-003chr10:
121153581-121153581
CGintronicDe novo--Yuen2017 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     2-1195-003chr10:
120974228-120974228
CTintronicDe novo--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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