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Results for "CAPRIN1"

Variant Events: 9

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
CAPRIN1     11520.p1chr11:
34107646-34107646
AGexonicDe novosynonymous SNVNM_005898
NM_203364
c.A1002G
c.A1002G
p.A334A
p.A334A
--Krumm2015 E
Satterstrom2020 E
CAPRIN1     2-1299-003chr11:
34076181-34076181
GAintronicDe novo--Yuen2017 G
CAPRIN1     AU1840305chr11:
34119293-34119293
CTexonicUnknownnonsynonymous SNVNM_005898
NM_203364
c.C2050T
c.C2050T
p.R684W
p.R684W
17.24-Stessman2017 T
CAPRIN1     09C99835chr11:
34107924-34107924
CTexonicDe novostopgainNM_005898
NM_203364
c.C1195T
c.C1195T
p.Q399X
p.Q399X
37.0-Satterstrom2020 E
CAPRIN1     211-5576-3chr11:
34107924-34107924
CTexonicDe novostopgainNM_005898
NM_203364
c.C1195T
c.C1195T
p.Q399X
p.Q399X
37.0-Stessman2017 T
Stessman2017 T
CAPRIN1     Uddin2014:15chr11:
34107924-34107924
CTexonicDe novostopgainNM_005898
NM_203364
c.C1195T
c.C1195T
p.Q399X
p.Q399X
37.0-Uddin2014 E
CAPRIN1     2-1305-003chr11:
34107924-34107924
CTexonicDe novostopgainNM_005898
NM_203364
c.C1195T
c.C1195T
p.Q399X
p.Q399X
37.0-Jiang2013 G
Yuen2016 G
Yuen2017 G
CAPRIN1     iHART1192chr11:
34097793-34097797
CAATACexonicPaternalframeshift deletionNM_005898
NM_203364
c.378_381del
c.378_381del
p.T126fs
p.T126fs
--Ruzzo2019 G
CAPRIN1     SSC02099chr11:
34107646-34107646
AGexonicDe novosynonymous SNVNM_005898
NM_203364
c.A1002G
c.A1002G
p.A334A
p.A334A
--Lim2017 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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