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Results for "RIMS2"

Variant Events: 42

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
RIMS2     AU3865301chr8:
104946753-104946753
AGintronicDe novo--Yuen2017 G
RIMS2     2-1633-003chr8:
105285438-105285438
TGintergenicDe novo--Yuen2017 G
RIMS2     AU4176302chr8:
105132846-105132846
TCintronicDe novo--Yuen2017 G
RIMS2     1-0139-003chr8:
105065221-105065221
GTintronicDe novo--Yuen2017 G
RIMS2     1-0552-003chr8:
105061441-105061441
GTintronicDe novo--Yuen2017 G
RIMS2     2-1154-003chr8:
105128885-105128885
AGintronicDe novo--Yuen2017 G
RIMS2     08C76385chr8:
104897656-104897656
CTexonicDe novostopgainNM_001282881
NM_014677
NM_001100117
c.C253T
c.C253T
c.C829T
p.R85X
p.R85X
p.R277X
23.4-Satterstrom2020 E
RIMS2     1-0218-004chr8:
104529016-104529016
GAintronicDe novo--Yuen2017 G
RIMS2     AU2000305chr8:
105271583-105271583
TCintergenicDe novo--Yuen2017 G
RIMS2     AU070703chr8:
105248776-105248784
TTACATACATTACAintronicDe novo--Yuen2017 G
RIMS2     2-0319-004chr8:
104968254-104968254
GCintronicDe novo--Yuen2017 G
RIMS2     AU3125301chr8:
104908890-104908890
TCintronicDe novo--Yuen2017 G
RIMS2     AU2000302chr8:
105232180-105232180
GAintronicDe novo--Yuen2017 G
RIMS2     12086.p1chr8:
104778570-104778570
GAexonicDe novononsynonymous SNVNM_001100117c.G503Ap.R168Q14.18.285E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
RIMS2     2-1734-003chr8:
104940195-104940195
GAintronicDe novo--Yuen2017 G
RIMS2     200675722@1082034785chr8:
104831696-104831696
GTUTR5De novo--Satterstrom2020 E
RIMS2     2-1487-003chr8:
104576162-104576162
AGintronicDe novo--Yuen2017 G
RIMS2     AU2525302chr8:
104748267-104748267
CTintronicDe novo--Yuen2017 G
RIMS2     1-0197-004chr8:
104980788-104980788
AGintronicDe novo--Yuen2017 G
RIMS2     1-0303-004chr8:
104754213-104754213
TCintronicDe novo--Yuen2017 G
RIMS2     AU2711303chr8:
105082213-105082213
CTintronicDe novo--Yuen2017 G
RIMS2     AU4269301chr8:
104981092-104981092
AGintronicDe novo--Yuen2017 G
RIMS2     1-0551-004chr8:
105033387-105033387
CCTTCATCTTTintronicDe novo--Yuen2017 G
RIMS2     7-0167-003chr8:
104669393-104669396
CTTTCTTTTTintronicDe novo--Yuen2017 G
RIMS2     1-0484-003chr8:
104954258-104954258
GTintronicDe novo--Yuen2017 G
RIMS2     AU030804chr8:
104935587-104935587
AGintronicDe novo--Yuen2017 G
RIMS2     AU3154302chr8:
105143998-105143998
AGintronicDe novo--Yuen2017 G
RIMS2     2-0122-004chr8:
105014662-105014672
TAGATTATCCATintronicDe novo--Yuen2017 G
RIMS2     2-0306-004chr8:
104577762-104577762
GAintronicDe novo--Yuen2017 G
RIMS2     1-0209-003chr8:
104889070-104889070
AGintronicDe novo--Yuen2017 G
RIMS2     1-0559-003chr8:
104953370-104953370
GAintronicDe novo--Yuen2017 G
RIMS2     1-0706-003chr8:
104551015-104551015
ACintronicDe novo--Yuen2017 G
RIMS2     2-1300-003chr8:
104702743-104702743
CTintronicDe novo--Yuen2016 G
Yuen2017 G
RIMS2     2-1341-003chr8:
104868227-104868227
GAintronicDe novo--Yuen2017 G
RIMS2     2-0306-003chr8:
104577762-104577762
GAintronicDe novo--Yuen2016 G
RIMS2     AU0452303chr8:
105001947-105001947
GCintronicDe novo--Yuen2017 G
RIMS2     1-0285-004chr8:
104601209-104601209
ACintronicDe novo--Yuen2017 G
RIMS2     1-0346-004chr8:
104990588-104990588
TTTCintronicDe novo--Yuen2017 G
RIMS2     AU3175302chr8:
104743242-104743250
AAGAGAGAGAAGAGAGAGAGintronicDe novo--Yuen2017 G
RIMS2     2-1281-003chr8:
105011464-105011464
ATintronicDe novo--Yuen2017 G
RIMS2     1-0051-004chr8:
104699610-104699610
AGintronicDe novo--Yuen2017 G
RIMS2     AU3912302chr8:
104529806-104529806
GTintronicDe 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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