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Results for "CAPZB"

Variant Events: 30

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
CAPZB     AU3636301chr1:
19720314-19720314
GAintronicDe novo--Trost2022 G
Yuen2017 G
CAPZB     AU4378301chr1:
19711977-19711977
CTintronicDe novo-2.0E-4Trost2022 G
Yuen2017 G
CAPZB     AU3057301chr1:
19701125-19701125
GAintronicDe novo--Trost2022 G
Yuen2017 G
CAPZB     7-0255-003chr1:
19826659-19826659
CTintergenicDe novo--Yuen2017 G
CAPZB     11461.p1chr1:
19712169-19712169
CTintronicDe novo--Satterstrom2020 E
CAPZB     A28chr1:
19894401-19894401
CTintergenicDe novo--Wu2018 G
CAPZB     AU2485305 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CAPZB     7-0197-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CAPZB     2-1066-003chr1:
19753882-19753882
TCintronicDe novo--Trost2022 G
Yuen2017 G
CAPZB     MSSNG00011-003chr1:
19664774-19664774
GCdownstreamDe novo--Trost2022 G
CAPZB     2-1089-004chr1:
19684580-19684580
CTintronicDe novo--Trost2022 G
Yuen2017 G
CAPZB     2-1323-003chr1:
19872327-19872327
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CAPZB     10-0001-003chr1:
19754590-19754590
GAintronicDe novo--Trost2022 G
CAPZB     L7H6W_01chr1:
19745126-19745126
AGintronicDe novo--Trost2022 G
CAPZB     3-0146-000chr1:
19770207-19770208
AGCAintronicDe novo--Trost2022 G
CAPZB     2-1723-003chr1:
19770207-19770208
AGCAintronicDe novo--Trost2022 G
CAPZB     2-1407-003chr1:
19720005-19720005
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CAPZB     AUTPGX_1015chr1:
19700505-19700505
GAintronicDe novo--Trost2022 G
CAPZB     MSSNG00213-003chr1:
19697631-19697631
TCintronicDe novo--Trost2022 G
CAPZB     MSSNG00354-004chr1:
19726642-19726642
TCintronicDe novo--Trost2022 G
CAPZB     SSC00441chr1:
19712169-19712169
CTintronicDe novo--Trost2022 G
CAPZB     AU2525302chr1:
19683982-19683985
CTTTCexonicDe novononframeshift deletionNM_001206540
NM_001282162
NM_004930
NM_001206541
c.402_404del
c.489_491del
c.402_404del
c.480_482del
p.134_135del
p.163_164del
p.134_135del
p.160_161del
--Yuen2017 G
Zhou2022 GE
CAPZB     1-0473-003chr1:
19718608-19718608
TCintronicDe novo--Yuen2017 G
CAPZB     SP0053071chr1:
19684011-19684011
GAexonicnonsynonymous SNVNM_001206540
NM_001282162
NM_004930
NM_001206541
c.C376T
c.C463T
c.C376T
c.C454T
p.H126Y
p.H155Y
p.H126Y
p.H152Y
26.4-Antaki2022 GE
Zhou2022 GE
CAPZB     AU011903chr1:
19854445-19854445
GAintergenicDe novo--Yuen2017 G
CAPZB     3-0476-000chr1:
19777447-19777447
GGTintronicDe novo--Trost2022 G
CAPZB     AU3905301chr1:
19725706-19725706
GAintronicDe novo--Yuen2017 G
CAPZB     2-1382-003chr1:
19695073-19695073
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CAPZB     1-0206-004chr1:
19835973-19835973
GAintergenicDe novo--Yuen2017 G
CAPZB     AU4284301chr1:
19824285-19824285
GCintergenicDe 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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