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Results for "CDH23"

Variant Events: 71

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     mAGRE4795chr10:
73454017-73454017
GAsplicingMaternalsplicing22.92.748E-5Cirnigliaro2023 G
CDH23     1-0324-003chr10:
73239966-73239966
TCintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     7-0024-005chr10:
73180178-73180178
GGGTAATGGTGATAintronicDe novo--Yuen2017 G
CDH23     1-0806-003chr10:
73306839-73306839
CGintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     SP0041412chr10:
73555868-73555868
GAintronicDe novo--Fu2022 E
Trost2022 G
CDH23     SP0035464chr10:
73462470-73462470
ACintronicDe novo--Fu2022 E
CDH23     SP0113902chr10:
73376905-73376905
ACintronicDe novo--Fu2022 E
CDH23     AU2303301chr10:
73230940-73230940
AGintronicDe novo--Trost2022 G
CDH23     2-1355-004chr10:
73202124-73202124
GTintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     1-0090-003chr10:
73237679-73237679
CTintronicDe novo--Trost2022 G
CDH23     REACH000681chr10:
73163877-73163877
GAintronicDe novo--Trost2022 G
CDH23     2-0309-005chr10:
73161573-73161573
GAintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     REACH000559chr10:
73169383-73169383
AGintronicDe novo--Trost2022 G
CDH23     1-0647-003chr10:
73162506-73162506
GAintronicDe novo--Trost2022 G
CDH23     2-1300-003chr10:
73231042-73231042
GTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CDH23     3-0309-000chr10:
73308834-73308834
CTintronicDe novo--Trost2022 G
CDH23     4-0043-003chr10:
73320677-73320677
GCintronicDe novo--Trost2022 G
CDH23     1-0601-003chr10:
73297954-73297954
TCintronicDe novo--Trost2022 G
CDH23     1-0144-005chr10:
73416606-73416606
GAintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     1-1155-003chr10:
73305149-73305149
GTintronicDe novo--Trost2022 G
CDH23     SP0023043chr10:
73490311-73490311
CAexonicnonsynonymous SNVNM_001171930
NM_022124
c.C3665A
c.C3665A
p.A1222E
p.A1222E
15.34-Zhou2022 GE
CDH23     2-0285-003chr10:
73266921-73266921
GCTGCCAintronicDe novo--Trost2022 G
CDH23     MCD-022-3chr10:
73485206-73485206
CTexonicBoth parentsnonsynonymous SNVNM_001171930
NM_022124
c.C3508T
c.C3508T
p.R1170W
p.R1170W
19.662.0E-4Tuncay2023 G
CDH23     SP0049742chr10:
73269949-73269949
GAexonicnonsynonymous SNVNM_001171930
NM_001171931
NM_001171932
NM_022124
NM_052836
c.G256A
c.G256A
c.G256A
c.G256A
c.G256A
p.V86M
p.V86M
p.V86M
p.V86M
p.V86M
22.49.94E-5Zhou2022 GE
CDH23     3-0175-000chr10:
73267001-73267001
TGintronicDe novo--Trost2022 G
CDH23     AU4264302chr10:
73367504-73367505
ACAintronicDe novo--Yuen2017 G
CDH23     610chr10:
73239855-73239855
GCintronicDe novo--Trost2022 G
CDH23     SJD_27.3 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
CDH23     SJD_10.3chr10:
73414768-73414768
CTintronicDe novo--Trost2022 G
CDH23     SJD_10.3chr10:
73416242-73416242
GCintronicDe novo--Trost2022 G
CDH23     5-0067-003chr10:
73403325-73403325
TCintronicDe novo--Trost2022 G
CDH23     SJD_10.3chr10:
73409914-73409914
ATintronicDe novo--Trost2022 G
CDH23     AU4033303chr10:
73184722-73184722
CTintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     REACH000537chr10:
73372402-73372402
GTintronicDe novo--Trost2022 G
CDH23     3-0072-000chr10:
73399886-73399886
CAintronicDe novo--Trost2022 G
CDH23     AU3451301chr10:
73332745-73332747
GGAGintronicDe novo--Trost2022 G
CDH23     7-0048-003chr10:
73344930-73344930
GTintronicDe novo--Trost2022 G
CDH23     5-0039-003chr10:
73504816-73504824
TTCATTCACTintronicDe novo--Trost2022 G
CDH23     AU045010chr10:
73443869-73443869
AACintronicDe novo--Trost2022 G
CDH23     MSSNG00346-004chr10:
73440134-73440134
GAintronicDe novo--Trost2022 G
CDH23     Cukier2014:17122chr10:
73537449-73537449
GAexonicUnknownnonsynonymous SNVNM_022124c.G4858Ap.V1620M18.680.0227Cukier2014 E
CDH23     5-0099-003chr10:
73240610-73240610
AGintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     7-0354-003chr10:
73441205-73441205
ACintronicDe novo--Trost2022 G
CDH23     SJD_10.3chr10:
73419400-73419400
GAintronicDe novo--Trost2022 G
CDH23     AU023012chr10:
73424028-73424028
GAintronicDe novo--Trost2022 G
CDH23     SP0153050chr10:
73570298-73570298
GAexonicDe novononsynonymous SNVNM_001171933
NM_001171934
NM_022124
c.G2329A
c.G2329A
c.G9049A
p.D777N
p.D777N
p.D3017N
16.471.658E-5Trost2022 G
CDH23     SP0048393chr10:
73539254-73539254
GAintronicDe novo-2.0E-4Trost2022 G
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
Zhou2022 GE
CDH23     SP0200676chr10:
73559430-73559430
CAintronicDe novo--Trost2022 G
CDH23     2-1296-003chr10:
73215771-73215771
CTintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     AU4310301chr10:
73332303-73332303
CTintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     08C75913chr10:
73548731-73548731
AGexonicDe novononsynonymous SNVNM_022124c.A5855Gp.E1952G19.71-Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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--Trost2022 G
Yuen2017 G
CDH23     2-0149-005chr10:
73282096-73282096
GAintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     1-0332-003chr10:
73436072-73436072
GAintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     BRK-23–01chr10:
73472421-73472421
GAsplicingUnknownsplicing20.3-Abdi2023 G
CDH23     AU3729303chr10:
73163937-73163937
AGintronicDe novo--Yuen2017 G
CDH23     2-1170-003chr10:
73342082-73342082
CTintronicDe novo--Yuen2017 G
CDH23     7-0247-003chr10:
73570732-73570732
GAintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     2-1269-003chr10:
73297117-73297117
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CDH23     200675339_1082034658chr10:
73538000-73538000
ACexonicDe novononsynonymous SNVNM_022124c.A5122Cp.T1708P18.69-Fu2022 E
CDH23     A25chr10:
73190250-73190250
TCintronicDe novo--Wu2018 G
CDH23     7-0032-003chr10:
73287026-73287026
CTintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     AU046703chr10:
73543357-73543357
AGintronicDe novo--Trost2022 G
Yuen2017 G
CDH23     AU030103chr10:
73246344-73246344
GAintronicDe novo--Trost2022 G
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
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CDH23     10C109080chr10:
73491982-73491982
CTexonicDe novosynonymous SNVNM_001171930
NM_022124
c.C3954T
c.C3954T
p.Y1318Y
p.Y1318Y
-3.425E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CDH23     2-1220-003chr10:
73566755-73566755
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CDH23     AU3122301chr10:
73289225-73289225
TCintronicDe 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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