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Results for "CDH24"

Variant Events: 6

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
CDH24     12211.p1chr14:
23524438-23524438
CTexonicDe novononsynonymous SNVNM_022478
NM_144985
c.G326A
c.G326A
p.R109Q
p.R109Q
20.94.121E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CDH24     iHART2067chr14:
23519135-23519135
AGexonicDe novononsynonymous SNVNM_144985
NM_022478
c.T1381C
c.T1495C
p.S461P
p.S499P
17.06-Ruzzo2019 G
CDH24     SP0001494chr14:
23524818-23524818
GAexonicDe novononsynonymous SNVNM_022478
NM_144985
c.C125T
c.C125T
p.T42I
p.T42I
7.1488.566E-6Feliciano2019 E
CDH24     AU1725302chr14:
23522847-23522847
GAexonicDe novononsynonymous SNVNM_022478
NM_144985
c.C1084T
c.C1084T
p.R362C
p.R362C
15.012.493E-5Yuen2017 G
CDH24     07C71059chr14:
23517704-23517704
GAintronicDe novo--Satterstrom2020 E
CDH24     SSC04950chr14:
23524438-23524438
CTexonicDe novononsynonymous SNVNM_022478
NM_144985
c.G326A
c.G326A
p.R109Q
p.R109Q
20.94.121E-5Lim2017 E
Source Variant Information

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Source:

Paper alias:

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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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