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Results for "CAPN15"

Variant Events: 16

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     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
CAPN15     EGAN00001101325chr16:
601372-601372
CTexonicDe novosynonymous SNVNM_005632c.C2137Tp.L713L--Satterstrom2020 E
CAPN15     2-0503-003chr16:
604820-604820
GAdownstreamDe novo--Yuen2017 G
CAPN15     133350chr16:
603398-603398
GAexonicnonsynonymous SNVNM_005632c.G3143Ap.R1048H27.52.52E-5Woodbury-Smith2022 E
CAPN15     111308chr16:
596938-596938
GAexonicnonsynonymous SNVNM_005632c.G100Ap.D34N25.92.607E-5Woodbury-Smith2022 E
CAPN15     11550.p1chr16:
601669-601669
CTintronicDe novo-7.0E-4Iossifov2014 E
Kosmicki2017 E
CAPN15     1-0286-003chr16:
599291-599291
CAexonicDe novononsynonymous SNVNM_005632c.C1662Ap.F554L10.96-Yuen2015 G
CAPN15     2-0503-004chr16:
604820-604820
GAdownstreamDe novo--Yuen2017 G
CAPN15     AU2000305chr16:
606888-606888
CTintergenicDe novo--Yuen2017 G
CAPN15     AU2000305chr16:
607522-607522
GAintergenicDe novo--Yuen2017 G
CAPN15     1-0455-004chr16:
584983-584983
CTintronicDe novo--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
Curation notesView
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