or
or
Exact

Results for "CDC42BPB"

Variant Events: 26

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
CDC42BPB     03C16977chr14:
103438378-103438378
GAexonicUnknownnonsynonymous SNVNM_006035c.C1762Tp.R588C19.848.237E-6Stessman2017 T
CDC42BPB     AU002406chr14:
103479071-103479071
GAintronicDe novo--Yuen2017 G
CDC42BPB     03C16978chr14:
103438378-103438378
GAexonicUnknownnonsynonymous SNVNM_006035c.C1762Tp.R588C19.848.237E-6Stessman2017 T
CDC42BPB     SSC10045chr14:
103405969-103405969
TCexonicMosaicnonsynonymous SNVNM_006035c.A4805Gp.Q1602R26.4-Lim2017 E
CDC42BPB     04C26296chr14:
103449962-103449962
CTexonicUnknownnonsynonymous SNVNM_006035c.G822Ap.M274I32.08.27E-6Stessman2017 T
CDC42BPB     Viggiano2022:22.3chr14:
103414132-103414132
CTexonicPaternalnonsynonymous SNVNM_006035c.G3457Ap.E1153K27.45.838E-5Viggiano2022 GT
CDC42BPB     AU1097302chr14:
103449962-103449962
CTexonicUnknownnonsynonymous SNVNM_006035c.G822Ap.M274I32.08.27E-6Stessman2017 T
CDC42BPB     2-1380-003chr14:
103548237-103548237
GTintergenicDe novo--Yuen2017 G
CDC42BPB     AU3517301chr14:
103507271-103507272
GCGintronicDe novo--Yuen2017 G
CDC42BPB     Viggiano2022:22.4chr14:
103414132-103414132
CTexonicPaternalnonsynonymous SNVNM_006035c.G3457Ap.E1153K27.45.838E-5Viggiano2022 GT
CDC42BPB     779-18300chr14:
103470357-103470357
CTexonicInheritednonsynonymous SNVNM_006035c.G355Ap.A119T27.7-Callaghan2019 G
CDC42BPB     13443.p1chr14:
103452806-103452806
TCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CDC42BPB     14152.p1chr14:
103433357-103433357
GAintronicDe novo-0.0011Wilfert2021 G
CDC42BPB     Mahjani2021:51chr14:
103449961-103449961
GTexonicnonsynonymous SNVNM_006035c.C823Ap.L275I22.6-Mahjani2021 E
CDC42BPB     1-0998-003chr14:
103409060-103409060
GGTTTAintronicDe novo--Yuen2017 G
CDC42BPB     AU1522303chr14:
103442313-103442313
GAexonicUnknownnonsynonymous SNVNM_006035c.C1294Tp.R432W22.6-Stessman2017 T
CDC42BPB     13606.p1chr14:
103434646-103434646
GAexonicDe novostopgainNM_006035c.C2290Tp.R764X23.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Wilfert2021 G
Willsey2013 E
CDC42BPB     13934.p1chr14:
103405969-103405969
TCexonicMosaic, De novononsynonymous SNVNM_006035c.A4805Gp.Q1602R26.4-Dou2017 E
Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
CDC42BPB     14586.p1chr14:
103480872-103480874
AACAintronicDe novo--Wilfert2021 G
CDC42BPB     14338.p1chr14:
103436589-103436589
GGAGCexonicDe novononframeshift insertionNM_006035c.1893_1894insGCTp.Q632delinsAQ--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
CDC42BPB     AU3125301chr14:
103464823-103464823
CAintronicDe novo--Yuen2017 G
CDC42BPB     Uddin2014:38chr14:
103434646-103434646
GAexonicDe novostopgainNM_006035c.C2290Tp.R764X23.0-Uddin2014 E
CDC42BPB     NDAR_INVAZ651VGG_wes1chr14:
103404494-103404494
CTexonicDe novononsynonymous SNVNM_006035c.G4951Ap.V1651M13.048.282E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CDC42BPB     AU079605 Complex Event; expand row to view variants  Inherited, De novoframeshift deletionNM_006035
NM_006035
c.1455_1458del
c.1453_1456del
p.K485fs
p.K485fs
--Stessman2017 T
Yuen2017 G
CDC42BPB     5-0110-003chr14:
103452930-103452930
TCintronicDe novo--Yuen2017 G
CDC42BPB     AU060703chr14:
103437887-103437887
CTintronicDe novo--Yuen2017 G
Source Variant Information

, -

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
More