or
or
Exact

Results for "CAD"

Variant Events: 9

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
CAD     13439.p1chr2:
27445812-27445812
TCexonicDe novononsynonymous SNVNM_001306079
NM_004341
c.T716C
c.T716C
p.V239A
p.V239A
7.444-Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
CAD     11076.p1chr2:
27464741-27464741
CTintronicDe novo--Satterstrom2020 E
CAD     Lim2017:35961chr2:
27455388-27455388
TGexonicDe novosynonymous SNVNM_001306079
NM_004341
c.T2529G
c.T2718G
p.V843V
p.V906V
--Lim2017 E
CAD     SSC07542chr2:
27445812-27445812
TCexonicDe novononsynonymous SNVNM_001306079
NM_004341
c.T716C
c.T716C
p.V239A
p.V239A
7.444-Lim2017 E
CAD     19991-31601chr2:
27445090-27445091
GTGexonicframeshift deletionNM_001306079
NM_004341
c.382delT
c.382delT
p.L128fs
p.L128fs
--Callaghan2019 G
CAD     PN400144chr2:
27456981-27456981
AACexonicUnknownframeshift insertionNM_001306079
NM_004341
c.3317dupC
c.3506dupC
p.T1106fs
p.T1169fs
-1.0E-4Leblond2019 E
CAD     13613.p1chr2:
27455388-27455388
TGexonicDe novosynonymous SNVNM_001306079
NM_004341
c.T2529G
c.T2718G
p.V843V
p.V906V
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
CAD     13649.p1chr2:
27474549-27474549
AGintergenicDe novo--Turner2016 G
CAD     2-1246-003chr2:
27464413-27464413
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