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Results for "CAPN12"

Variant Events: 22

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
CAPN12     iHART2500chr19:
39229212-39229212
AGsplicingPaternalsplicing13.57-Ruzzo2019 G
CAPN12     iHART2502chr19:
39229212-39229212
AGsplicingPaternalsplicing13.57-Ruzzo2019 G
CAPN12     14369.p1chr19:
39228219-39228219
GAexonicDe novononsynonymous SNVNM_144691c.C1025Tp.P342L26.96.212E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CAPN12     iHART2234chr19:
39232463-39232463
GAexonicPaternalstopgainNM_144691c.C514Tp.Q172X38.02.49E-5Ruzzo2019 G
CAPN12     PN400279chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     iHART3105chr19:
39230760-39230762
GTTGexonicMaternalframeshift deletionNM_144691c.658_659delp.N220fs-8.0E-4Ruzzo2019 G
CAPN12     PN400434chr19:
39226891-39226891
GGAGCGGTCGGCGCGCexonicUnknownframeshift insertionNM_144691c.1441_1442insGCGCGCCGACCGCTp.S481fs--Leblond2019 E
CAPN12     iHART2501chr19:
39229212-39229212
AGsplicingPaternalsplicing13.57-Ruzzo2019 G
CAPN12     iHART2715chr19:
39224423-39224423
TCsplicingPaternalsplicing10.294.201E-5Ruzzo2019 G
CAPN12     PN400517chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400179chr19:
39226891-39226891
GGAGCGGTCGGCGCGCexonicUnknownframeshift insertionNM_144691c.1441_1442insGCGCGCCGACCGCTp.S481fs--Leblond2019 E
CAPN12     PN400102chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400412chr19:
39226891-39226891
GGAGCGGTCGGCGCGCexonicUnknownframeshift insertionNM_144691c.1441_1442insGCGCGCCGACCGCTp.S481fs--Leblond2019 E
CAPN12     PN400584chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400166chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     ASDFI_1513chr19:
39229252-39229252
CTexonicDe novononsynonymous SNVNM_144691c.G766Ap.V256I18.48-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CAPN12     PN400114chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400480chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     1-0286-003chr19:
39233725-39233725
CAexonicDe novosynonymous SNVNM_144691c.G255Tp.P85P--Yuen2015 G
CAPN12     PN400285chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400508chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400439chr19:
39230735-39230735
GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 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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