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Results for "CANX"

Variant Events: 10

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
CANX     12380.p1chr5:
179155680-179155680
CTUTR3De novo-2.232E-5Krumm2015 E
CANX     5-0017-003chr5:
179128013-179128013
GAintronicDe novo--Trost2022 G
Yuen2017 G
CANX     AU2328301chr5:
179132702-179132702
TCexonicDe novononsynonymous SNVNM_001024649
NM_001746
c.T20C
c.T20C
p.L7P
p.L7P
18.18-Trost2022 G
CANX     SP0054119chr5:
179132916-179132916
CGintronicDe novo--Fu2022 E
CANX     5-0019-003chr5:
179131444-179131444
CTintronicDe novo--Trost2022 G
CANX     5-0111-003chr5:
179143396-179143396
GCintronicDe novo--Trost2022 G
Yuen2017 G
CANX     TRE_1464chr5:
179132768-179132768
TCexonicDe novononsynonymous SNVNM_001024649
NM_001746
c.T86C
c.T86C
p.I29T
p.I29T
17.28-Fu2022 E
CANX     SP0040276chr5:
179125661-179125662
CGCupstreamDe novo--Fu2022 E
CANX     7-0127-003chr5:
179154261-179154261
AGintronicDe novo--Trost2022 G
Yuen2017 G
CANX     2-0003-003chr5:
179132790-179132790
CTexonicDe novosynonymous SNVNM_001024649
NM_001746
c.C108T
c.C108T
p.D36D
p.D36D
--Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE
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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