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Results for "CAPN2"

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
CAPN2     PN400323chr1:
223938631-223938631
CTexonicUnknownstopgainNM_001146068
NM_001748
c.C619T
c.C853T
p.R207X
p.R285X
38.0-Leblond2019 E
CAPN2     1-0757-003chr1:
223915112-223915112
GAintronicDe novo--Yuen2017 G
CAPN2     PN400507chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     PN400506chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     PN400369chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     PN400539chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     AU072505chr1:
223946308-223946308
GAintronicDe novo--Yuen2017 G
CAPN2     PN400190chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     PN400348chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     PN400521chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     PN400113chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     PN400538chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     13486.p1chr1:
223895759-223895761
GTCTTTintronicDe novo--Wilfert2021 G
CAPN2     PN400332chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-4Leblond2019 E
CAPN2     14603.p1chr1:
223938688-223938688
CGintronicMosaic--Dou2017 E
CAPN2     PN400505chr1:
223934845-223934845
CTexonicUnknownnonsynonymous SNVNM_001146068
NM_001748
c.C473T
c.C707T
p.S158F
p.S236F
32.06.0E-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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