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Results for "CAND1"

Variant Events: 16

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
CAND1     AU0780301chr12:
67902892-67902892
CTintergenicDe novo--Yuen2017 G
CAND1     AU0780301chr12:
67903206-67903206
GCintergenicDe novo--Yuen2017 G
CAND1     AU4485302chr12:
67870647-67870647
GAintergenicDe novo--Yuen2017 G
CAND1     2-0305-003chr12:
67714045-67714045
TCintergenicDe novo--Yuen2017 G
CAND1     2-1066-003chr12:
67681864-67681864
AGintronicDe novo--Yuen2017 G
CAND1     4B713chr12:
67701253-67701253
ACexonicDe novosynonymous SNVNM_018448c.A3006Cp.P1002P--Satterstrom2020 E
CAND1     AU4250301chr12:
67894035-67894035
TAintergenicDe novo--Yuen2017 G
CAND1     AU031204chr12:
67743057-67743057
CTintergenicDe novo--Yuen2017 G
CAND1     2-1205-003chr12:
67740540-67740540
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
CAND1     1-0455-003chr12:
67702561-67702561
CTintronicDe novo--Yuen2017 G
CAND1     74-0688chr12:
67874041-67874041
CTintergenicDe novo--Michaelson2012 G
CAND1     1-0107-003chr12:
67732805-67732805
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
CAND1     2-1254-003chr12:
67861718-67861718
TCintergenicDe novo--Yuen2016 G
CAND1     AU074403chr12:
67689243-67689243
GAintronicDe novo--Yuen2017 G
CAND1     AU056804chr12:
67741708-67741708
CTintergenicDe novo--Yuen2017 G
CAND1     AU4223302chr12:
67733216-67733224
GTTTCTTTTGTTTintergenicDe 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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