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Results for "RGS6"

Variant Events: 44

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
RGS6     12449.p1chr14:
72974586-72974586
GAintronicDe novo--Turner2016 G
RGS6     1-0231-004chr14:
72922835-72922835
GCintronicDe novo--Yuen2017 G
RGS6     14153.p1chr14:
72514589-72514589
TCintronicDe novo--Turner2016 G
RGS6     1-0354-003chr14:
73022488-73022488
GGACATintronicDe novo--Yuen2017 G
RGS6     1-0914-003chr14:
72585144-72585144
ATintronicDe novo--Yuen2017 G
RGS6     2-1409-003chr14:
72475313-72475313
GTintronicDe novo--Yuen2016 G
Yuen2017 G
RGS6     1-0674-003chr14:
72621708-72621708
GAintronicDe novo--Yuen2017 G
RGS6     2-0210-005chr14:
72678941-72678941
CTintronicDe novo--Yuen2017 G
RGS6     14387.p1chr14:
72742901-72742901
TTAintronicDe novo--Krumm2015 E
RGS6     2-1730-003chr14:
72822128-72822128
CAintronicDe novo--Yuen2017 G
RGS6     7-0119-003chr14:
73067387-73067387
AGintergenicDe novo--Yuen2017 G
RGS6     1-0508-003chr14:
72744620-72744620
CTintronicDe novo--Yuen2017 G
RGS6     AU2075301chr14:
72521655-72521655
TCintronicDe novo--Yuen2017 G
RGS6     1-0404-003chr14:
72650936-72650936
CTintronicDe novo--Yuen2017 G
RGS6     2-1290-004chr14:
73001063-73001063
GAintronicDe novo--Yuen2017 G
RGS6     2-1497-003chr14:
73024789-73024789
GTintronicDe novo--Yuen2017 G
RGS6     2-1350-003chr14:
72519021-72519021
ACintronicDe novo--Yuen2017 G
RGS6     AU3874302chr14:
72718395-72718395
AGintronicDe novo--Yuen2017 G
RGS6     2-0102-003chr14:
72718912-72718912
CTintronicDe novo--Yuen2017 G
RGS6     AU2495302chr14:
72754394-72754394
GAintronicDe novo--Yuen2017 G
RGS6     AU012804chr14:
72894531-72894531
TCintronicDe novo--Yuen2017 G
RGS6     AU3984302chr14:
72401708-72401708
CTintronicDe novo--Yuen2017 G
RGS6     AU2410302chr14:
72406835-72406835
CGintronicDe novo--Yuen2017 G
RGS6     5-0095-003chr14:
72861318-72861318
CTintronicDe novo--Yuen2017 G
RGS6     AU3368303chr14:
72569760-72569760
CAintronicDe novo--Yuen2017 G
RGS6     63-343chr14:
72975844-72975844
GAintronicInherited--Michaelson2012 G
RGS6     1-0126-003chr14:
72533987-72533987
GAintronicDe novo--Yuen2017 G
RGS6     5-0088-003chr14:
72763055-72763055
ATintronicDe novo--Yuen2017 G
RGS6     AU4153301chr14:
72536516-72536516
CAintronicDe novo--Yuen2017 G
RGS6     AU4243302chr14:
72786119-72786119
GAintronicDe novo--Yuen2017 G
RGS6     1-0354-006chr14:
73022488-73022488
GGACATintronicDe novo--Yuen2017 G
RGS6     AU3371303chr14:
72414438-72414438
AGintronicDe novo--Yuen2017 G
RGS6     2-0305-004chr14:
73078359-73078359
CGintergenicDe novo--Yuen2017 G
RGS6     1-0304-003chr14:
73051286-73051286
GTintergenicDe novo--Yuen2017 G
RGS6     AU3076302chr14:
72736124-72736124
GAintronicDe novo--Yuen2017 G
RGS6     AU3635301chr14:
72846581-72846581
GAintronicDe novo--Yuen2017 G
RGS6     AU3638302chr14:
72542602-72542602
CTintronicDe novo--Yuen2017 G
RGS6     2-0295-004chr14:
72416579-72416580
TATintronicDe novo--Yuen2017 G
RGS6     065-06-105547chr14:
73007761-73007761
CTintronicDe novo-1.402E-5Satterstrom2020 E
RGS6     AU4235302chr14:
72932330-72932330
GAintronicDe novo--Yuen2017 G
RGS6     1-0190-003chr14:
72748053-72748053
CAintronicDe novo--Yuen2017 G
RGS6     1-0210-004chr14:
72991196-72991196
AGintronicDe novo--Yuen2017 G
RGS6     1-0560-003chr14:
72594234-72594234
CTintronicDe novo--Yuen2017 G
RGS6     2-1368-003chr14:
72653013-72653013
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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