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Results for "CAPN15"

Variant Events: 30

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
CAPN15     EGAN00001101325chr16:
601372-601372		CTexonicDe novosynonymous SNVNM_005632c.C2137Tp.L713L--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CAPN15     2-0503-003chr16:
604820-604820		GAdownstreamDe novo--Trost2022 G
Yuen2017 G
CAPN15     111308chr16:
596938-596938		GAexonicnonsynonymous SNVNM_005632c.G100Ap.D34N25.92.607E-5Woodbury-Smith2022 E
CAPN15     SP0070265chr16:
578688-578688		CTintronicDe novo--Trost2022 G
CAPN15     1-0286-003chr16:
599291-599291		CAexonicDe novononsynonymous SNVNM_005632c.C1662Ap.F554L10.96-Yuen2015 G
CAPN15     SP0211211chr16:
602057-602057		CTexonicDe novosynonymous SNVNM_005632c.C2352Tp.F784F-7.0E-4Trost2022 G
CAPN15     SP0214333chr16:
603052-603052		GAintronicDe novo-3.0E-4Trost2022 G
CAPN15     SP0021995chr16:
590071-590071		TGintronicDe novo--Trost2022 G
CAPN15     SP0017985chr16:
601675-601675		CTintronicDe novo-4.0E-4Trost2022 G
CAPN15     REACH000616chr16:
584230-584230		AGintronicDe novo--Trost2022 G
CAPN15     SP0143065chr16:
586069-586069		CTUTR5De novo--Trost2022 G
CAPN15     7-0102-003chr16:
584230-584230		AGintronicDe novo--Trost2022 G
CAPN15     AU3794301chr16:
584230-584230		AGintronicDe novo--Trost2022 G
CAPN15     20569-32326chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
CAPN15     187-13717chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
CAPN15     928-19074chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
CAPN15     21267-33506chr16:
586144-586144		TCsplicingsplicing--Callaghan2019 G
CAPN15     018-08-108865chr16:
602786-602786		CTintronicDe novo--Satterstrom2020 E
Trost2022 G
CAPN15     SP0137425chr16:
597596-597596		CTexonicDe novononsynonymous SNVNM_005632c.C758Tp.P253L14.12-Fu2022 E
Zhou2022 GE
CAPN15     SP0027931chr16:
602664-602664		GAexonicDe novononsynonymous SNVNM_005632c.G2797Ap.A933T17.14-Fu2022 E
Zhou2022 GE
CAPN15     SP0139947chr16:
599655-599655		CTexonicDe novononsynonymous SNVNM_005632c.C1883Tp.A628V36.0-Fu2022 E
Zhou2022 GE
CAPN15     133350chr16:
603398-603398		GAexonicnonsynonymous SNVNM_005632c.G3143Ap.R1048H27.52.52E-5Woodbury-Smith2022 E
CAPN15     11550.p1chr16:
601669-601669		CTintronicDe novo-7.0E-4Iossifov2014 E
Kosmicki2017 E
CAPN15     2-0503-004chr16:
604820-604820		GAdownstreamDe novo--Yuen2017 G
CAPN15     AU2000305chr16:
606888-606888		CTintergenicDe novo--Yuen2017 G
CAPN15     SP0122666chr16:
583987-583987		CTUTR5De novo--Fu2022 E
Trost2022 G
CAPN15     AU2000305chr16:
607522-607522		GAintergenicDe novo--Yuen2017 G
CAPN15     SP0062760chr16:
597822-597822		CTexonicDe novosynonymous SNVNM_005632c.C984Tp.T328T--Fu2022 E
Trost2022 G
Zhou2022 GE
CAPN15     1-0455-004chr16:
584983-584983		CTintronicDe novo--Trost2022 G
Yuen2017 G
CAPN15     PN400488chr16:
602191-602191		CTexonicUnknownnonsynonymous SNVNM_005632c.C2486Tp.A829V34.04.0E-4Leblond2019 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
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