or
or
Exact

Results for "CAPN12"

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
CAPN12     14369.p1chr19:
39228219-39228219		GAexonicDe novononsynonymous SNVNM_144691c.C1025Tp.P342L26.96.212E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CAPN12     14369_p1chr19:
39228219-39228219		GAexonicDe novononsynonymous SNVNM_144691c.C1025Tp.P342L26.96.212E-5Fu2022 E
CAPN12     PN400179chr19:
39226891-39226891		GGAGCGGTCGGCGCGCexonicUnknownframeshift insertionNM_144691c.1441_1442insGCGCGCCGACCGCTp.S481fs--Leblond2019 E
CAPN12     12036-1chr19:
39225036-39225041		GAAAAAGintronicDe novo--Fu2022 E
CAPN12     PN400412chr19:
39226891-39226891		GGAGCGGTCGGCGCGCexonicUnknownframeshift insertionNM_144691c.1441_1442insGCGCGCCGACCGCTp.S481fs--Leblond2019 E
CAPN12     SP0132363chr19:
39226211-39226211		AAGGGGGCTGTTTGCCCCAGCintronicDe novo-9.074E-6Fu2022 E
CAPN12     ASDFI_1513chr19:
39229252-39229252		CTexonicDe novononsynonymous SNVNM_144691c.G766Ap.V256I18.48-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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     PN400508chr19:
39230735-39230735		GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     iHART2500chr19:
39229212-39229212		AGsplicingPaternalsplicing13.57-Ruzzo2019 G
CAPN12     SP0070757chr19:
39234864-39234864		GAUTR5De novo--Fu2022 E
CAPN12     iHART2502chr19:
39229212-39229212		AGsplicingPaternalsplicing13.57-Ruzzo2019 G
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     SP0060149chr19:
39227246-39227246		TTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGintronicDe novo--Fu2022 E
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     AU1795302chr19:
39229212-39229212		AGsplicingPaternalsplicing13.57-Cirnigliaro2023 G
CAPN12     AU1795301chr19:
39229212-39229212		AGsplicingPaternalsplicing13.57-Cirnigliaro2023 G
CAPN12     mAGRE2715chr19:
39224423-39224423		TCsplicingPaternalsplicing10.294.201E-5Cirnigliaro2023 G
CAPN12     PN400102chr19:
39230735-39230735		GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400584chr19:
39230735-39230735		GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     SP0153456chr19:
39227245-39227245		GAintronicDe novo-0.0086Trost2022 G
CAPN12     PN400166chr19:
39230735-39230735		GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     MSSNG00108-003chr19:
39222176-39222176		TCintronicDe novo--Trost2022 G
Trost2022 G
CAPN12     mAGRE4452chr19:
39233685-39233687		GACGexonicMaternalframeshift deletionNM_144691c.293_294delp.C98fs--Cirnigliaro2023 G
CAPN12     MSSNG00108-003chr19:
39222071-39222071		CAintronicDe novo--Trost2022 G
Trost2022 G
CAPN12     mAGRE4451chr19:
39233685-39233687		GACGexonicMaternalframeshift deletionNM_144691c.293_294delp.C98fs--Cirnigliaro2023 G
CAPN12     mAGRE2234chr19:
39232463-39232463		GAexonicPaternalstopgainNM_144691c.C514Tp.Q172X38.02.49E-5Cirnigliaro2023 G
CAPN12     mAGRE4586chr19:
39230760-39230762		GTTGexonicPaternalframeshift deletionNM_144691c.658_659delp.N220fs-8.0E-4Cirnigliaro2023 G
CAPN12     PN400114chr19:
39230735-39230735		GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     mAGRE4584chr19:
39230760-39230762		GTTGexonicPaternalframeshift deletionNM_144691c.658_659delp.N220fs-8.0E-4Cirnigliaro2023 G
CAPN12     mAGRE3105chr19:
39230760-39230762		GTTGexonicMaternalframeshift deletionNM_144691c.658_659delp.N220fs-8.0E-4Cirnigliaro2023 G
CAPN12     GM173276chr19:
39227244-39227244		GGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCintronicDe novo--Fu2022 E
CAPN12     AU1795303chr19:
39229212-39229212		AGsplicingPaternalsplicing13.57-Cirnigliaro2023 G
CAPN12     PN400285chr19:
39230735-39230735		GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     PN400439chr19:
39230735-39230735		GAexonicUnknownnonsynonymous SNVNM_144691c.C685Tp.R229C18.410.0012Leblond2019 E
CAPN12     SP0016344chr19:
39227246-39227246		TGintronicDe novo-0.0154Trost2022 G
Source Variant Information

, -

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
More

VariCarta Copyright © 2016-2023 Contact Us