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Results for "CARS"

Variant Events: 11

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
CARS     13778.p1chr11:
3048016-3048016
TCexonicDe novononsynonymous SNVNM_001751
NM_139273
NM_001014437
NM_001194997
c.A794G
c.A794G
c.A1043G
c.A1043G
p.N265S
p.N265S
p.N348S
p.N348S
11.423.31E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
CARS     AU3716301chr11:
3036946-3036946
GTintronicDe novo--Yuen2017 G
CARS     AU3702306chr11:
3052765-3052765
AGintronicDe novo--Yuen2017 G
CARS     AU3695303chr11:
3104172-3104172
TGintergenicDe novo--Yuen2017 G
CARS     5-0073-003chr11:
3106649-3106649
CTintergenicDe novo--Yuen2017 G
CARS     AU038204chr11:
3103531-3103531
CGintergenicDe novo--Yuen2017 G
CARS     AU3859301chr11:
3051708-3051708
GAintronicDe novo--Yuen2017 G
CARS     2-1153-003chr11:
3099017-3099017
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
CARS     1-0393-003chr11:
3080995-3080995
ATintergenicDe novo--Yuen2017 G
CARS     1-0446-003chr11:
3100133-3100133
AGintergenicDe novo--Yuen2017 G
CARS     2-1093-003chr11:
3045446-3045446
TGintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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