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Results for "RIC1"

Variant Events: 14

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
RIC1     12661.p1chr9:
5763642-5763642
ACexonicDe novononsynonymous SNVNM_001206557
NM_001135920
NM_020829
c.A2504C
c.A2615C
c.A2615C
p.E835A
p.E872A
p.E872A
18.955.767E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
RIC1     13638.p1chr9:
5769178-5769178
AGexonicMosaic, De novononsynonymous SNVNM_001206557
NM_001135920
NM_020829
c.A3235G
c.A3346G
c.A3346G
p.K1079E
p.K1116E
p.K1116E
11.678.25E-6Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
RIC1     AU2035301chr9:
5746979-5746979
CTintronicDe novo--Yuen2017 G
RIC1     14397.p1chr9:
5780380-5780380
GCintergenicDe novo--Werling2018 G
RIC1     12369.p1chr9:
5762533-5762533
ACintronicMosaic-0.4043Dou2017 E
RIC1     AU2035302chr9:
5746979-5746979
CTintronicDe novo--Yuen2017 G
RIC1     1-0402-004chr9:
5661426-5661426
GAintronicDe novo--Yuen2017 G
RIC1     AU1987304chr9:
5657562-5657562
AGintronicDe novo--Yuen2017 G
RIC1     13104.p1chr9:
5710475-5710475
GTintronicDe novo--Wilfert2021 G
RIC1     AU034903chr9:
5701729-5701729
ACintronicDe novo--Yuen2017 G
RIC1     AU030703chr9:
5686522-5686522
CGintronicDe novo--Yuen2017 G
RIC1     AU3888302chr9:
5709027-5709027
TGintronicDe novo--Yuen2017 G
RIC1     AU2123302chr9:
5757005-5757005
TCintronicDe novo--Yuen2017 G
RIC1     SP0041858chr9:
5763278-5763278
CTexonicDe novononsynonymous SNVNM_001206557
NM_001135920
NM_020829
c.C2140T
c.C2251T
c.C2251T
p.P714S
p.P751S
p.P751S
25.3-Feliciano2019 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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