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Results for "RGS22"

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
RGS22     5-0025-004chr8:
101045024-101045024
CAintronicDe novo--Yuen2017 G
RGS22     AU039305chr8:
101059035-101059035
AGintronicDe novo--Yuen2017 G
RGS22     iHART2999chr8:
101018316-101018316
GAexonicMaternalstopgainNM_001286693
NM_001286692
NM_015668
c.C1840T
c.C2347T
c.C2383T
p.R614X
p.R783X
p.R795X
45.0-Ruzzo2019 G
RGS22     12063.p1chr8:
101052158-101052158
ATintronicDe novo--Satterstrom2020 E
RGS22     AU4410302chr8:
101135893-101135893
TCintergenicDe novo--Yuen2017 G
RGS22     13593.p1chr8:
100990260-100990260
CAexonicDe novononsynonymous SNVNM_001286693
NM_001286692
NM_015668
c.G2861T
c.G3368T
c.G3404T
p.C954F
p.C1123F
p.C1135F
15.73-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
RGS22     AU053503chr8:
101112825-101112825
GAintronicDe novo--Yuen2017 G
RGS22     1-0627-004chr8:
101014731-101014731
CTintronicDe novo--Yuen2017 G
RGS22     1-0582-003chr8:
101137874-101137874
CAintergenicDe novo--Yuen2017 G
RGS22     2-1183-003chr8:
101009288-101009288
CAintronicDe novo--Yuen2017 G
RGS22     5-0014-004chr8:
101045024-101045024
CAintronicDe novo--Yuen2017 G
RGS22     2-1416-004chr8:
101045024-101045024
CAintronicDe novo--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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