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Results for "CDH23"

Variant Events: 32

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
CDH23     08C75913chr10:
73548731-73548731
AGexonicDe novononsynonymous SNVNM_022124c.A5855Gp.E1952G19.71-Satterstrom2020 E
CDH23     1-0324-003chr10:
73239966-73239966
TCintronicDe novo--Yuen2017 G
CDH23     7-0024-005chr10:
73180178-73180178
GGGTAATGGTGATAintronicDe novo--Yuen2017 G
CDH23     1-0806-003chr10:
73306839-73306839
CGintronicDe novo--Yuen2017 G
CDH23     14454.p1chr10:
73548795-73548795
CTexonicMosaicsynonymous SNVNM_022124c.C5919Tp.P1973P-5.107E-5Dou2017 E
CDH23     AU030104chr10:
73246344-73246344
GAintronicDe novo--Yuen2017 G
CDH23     1-0595-005chr10:
73331767-73331767
CTintronicDe novo--Yuen2017 G
CDH23     2-0149-005chr10:
73282096-73282096
GAintronicDe novo--Yuen2017 G
CDH23     2-1355-004chr10:
73202124-73202124
GTintronicDe novo--Yuen2017 G
CDH23     1-0332-003chr10:
73436072-73436072
GAintronicDe novo--Yuen2017 G
CDH23     2-0309-005chr10:
73161573-73161573
GAintronicDe novo--Yuen2017 G
CDH23     AU3729303chr10:
73163937-73163937
AGintronicDe novo--Yuen2017 G
CDH23     2-1170-003chr10:
73342082-73342082
CTintronicDe novo--Yuen2017 G
CDH23     2-1300-003chr10:
73231042-73231042
GTintronicDe novo--Yuen2016 G
Yuen2017 G
CDH23     1-0144-005chr10:
73416606-73416606
GAintronicDe novo--Yuen2017 G
CDH23     AU4264302chr10:
73367504-73367505
ACAintronicDe novo--Yuen2017 G
CDH23     7-0247-003chr10:
73570732-73570732
GAintronicDe novo--Yuen2017 G
CDH23     AU4033303chr10:
73184722-73184722
CTintronicDe novo--Yuen2017 G
CDH23     2-1269-003chr10:
73297117-73297117
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CDH23     A25chr10:
73190250-73190250
TCintronicDe novo--Wu2018 G
CDH23     7-0032-003chr10:
73287026-73287026
CTintronicDe novo--Yuen2017 G
CDH23     Cukier2014:17122chr10:
73537449-73537449
GAexonicUnknownnonsynonymous SNVNM_022124c.G4858Ap.V1620M18.680.0227Cukier2014 E
CDH23     5-0099-003chr10:
73240610-73240610
AGintronicDe novo--Yuen2017 G
CDH23     AU046703chr10:
73543357-73543357
AGintronicDe novo--Yuen2017 G
CDH23     AU030103chr10:
73246344-73246344
GAintronicDe novo--Yuen2017 G
CDH23     DEASD_0439_001chr10:
73464800-73464800
GAexonicDe novononsynonymous SNVNM_001171930
NM_001171931
NM_022124
c.G2866A
c.G2866A
c.G2866A
p.E956K
p.E956K
p.E956K
36.03.433E-5DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CDH23     10C109080chr10:
73491982-73491982
CTexonicDe novosynonymous SNVNM_001171930
NM_022124
c.C3954T
c.C3954T
p.Y1318Y
p.Y1318Y
-3.425E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
CDH23     AU1933301chr10:
73450275-73450275
TAexonicDe novononsynonymous SNVNM_001171930
NM_001171931
NM_022124
c.T2110A
c.T2110A
c.T2110A
p.Y704N
p.Y704N
p.Y704N
20.2-Yuen2017 G
CDH23     2-1220-003chr10:
73566755-73566755
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CDH23     2-1296-003chr10:
73215771-73215771
CTintronicDe novo--Yuen2017 G
CDH23     AU3122301chr10:
73289225-73289225
TCintronicDe novo--Yuen2017 G
CDH23     AU4310301chr10:
73332303-73332303
CTintronicDe novo--Yuen2017 G
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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