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Results for "RIN3"

Variant Events: 29

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
RIN3     mAGRE5447chr14:
93118269-93118274
GCAGCCGexonicUnknownframeshift deletionNM_024832c.876_880delp.C292fs--Cirnigliaro2023 G
RIN3     Wang2023:568chr14:
93154517-93154517
TCexonicDe novononsynonymous SNVNM_024832c.T2878Cp.Y960H16.61-Wang2023 E
RIN3     1-0321-004chr14:
93026554-93026554
CTintronicDe novo--Trost2022 G
Yuen2017 G
RIN3     SMHC01813d000chr14:
93118563-93118563
GAexonicDe novononsynonymous SNVNM_024832c.G1169Ap.R390H14.331.0E-4Yuan2023 E
RIN3     2-1223-003chr14:
93110356-93110356
GAintronicDe novo--Trost2022 G
Yuen2017 G
RIN3     AU3906301chr14:
93097861-93097861
GAintronicDe novo--Trost2022 G
Yuen2017 G
RIN3     2-1370-003chr14:
93015605-93015605
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
RIN3     2-1408-003chr14:
92997268-92997268
CTintronicDe novo--Trost2022 G
RIN3     2-1408-003chr14:
92997271-92997271
AAGintronicDe novo--Trost2022 G
RIN3     MSSNG00131-003chr14:
92992237-92992237
GAintronicDe novo--Trost2022 G
RIN3     2-1456-004chr14:
92992838-92992839
CCATintronicDe novo--Trost2022 G
RIN3     2-1299-003chr14:
93113989-93113995
AATATTTAintronicDe novo--Trost2022 G
Yuen2017 G
RIN3     SP0100647chr14:
93154696-93154696
GAUTR3De novo--Fu2022 E
RIN3     AU3727303chr14:
92997190-92997190
AGintronicDe novo--Trost2022 G
Yuen2017 G
RIN3     SP0041721chr14:
93119248-93119248
CGexonicDe novononsynonymous SNVNM_024832c.C1854Gp.S618R12.79-Fu2022 E
Trost2022 G
Zhou2022 GE
RIN3     5-0133-003chr14:
93077857-93077860
CAAATAGTAGAGACAGintronicDe novo--Trost2022 G
RIN3     REACH000233chr14:
93139873-93139873
CAintronicDe novo--Trost2022 G
RIN3     1-0595-005chr14:
93038382-93038391
CAGGAACAAACintronicDe novo--Trost2022 G
RIN3     MT_155.3chr14:
93069219-93069219
GAintronicDe novo--Trost2022 G
RIN3     1033chr14:
93029773-93029773
GTintronicDe novo--Trost2022 G
RIN3     14-600chr14:
93030115-93030115
AGintronicDe novo--Trost2022 G
RIN3     1-0579-003chr14:
93029735-93029735
TCintronicDe novo--Trost2022 G
Yuen2017 G
RIN3     2-0244-003chr14:
93061739-93061740
ACAintronicDe novo--Trost2022 G
Yuen2017 G
RIN3     5-5004-003chr14:
93002633-93002633
TCintronicDe novo--Trost2022 G
RIN3     1-0214-003chr14:
93024754-93024754
TCintronicDe novo--Trost2022 G
RIN3     DEASD_0331_001chr14:
93118106-93118106
AGexonicDe novononsynonymous SNVNM_024832c.A712Gp.I238V11.918.24E-6DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RIN3     1-1022-003Achr14:
93150298-93150298
TCintronicDe novo--Trost2022 G
RIN3     SP0060861chr14:
93154531-93154534
CGGTCexonicDe novononframeshift deletionNM_024832c.2893_2895delp.965_965del-0.0014Trost2022 G
RIN3     13146.p1chr14:
93081784-93081784
GAexonicMosaicnonsynonymous SNVNM_024832c.G400Ap.E134K19.89-Krupp2017 E
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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