Variant Results

or

Results for "CARS"

Variant Events: 12

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.p1

chr11:
3048016-3048016

T

C

exonic

De novo

nonsynonymous SNV

NM_001751
NM_139273
NM_001014437
NM_001194997

c.A794G
c.A794G
c.A1043G
c.A1043G

p.N265S
p.N265S
p.N348S
p.N348S

11.42

3.31E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

CARS

AU3695303

chr11:
3104172-3104172

T

G

intergenic

De novo

-

Yuen2017 G

CARS

2-1153-003

chr11:
3099017-3099017

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CARS

1-0393-003

chr11:
3080995-3080995

A

T

intergenic

De novo

-

Yuen2017 G

CARS

13778_p1

chr11:
3048016-3048016

T

C

exonic

De novo

nonsynonymous SNV

NM_001751
NM_139273
NM_001014437
NM_001194997

c.A794G
c.A794G
c.A1043G
c.A1043G

p.N265S
p.N265S
p.N348S
p.N348S

11.42

3.31E-5

Fu2022 E

CARS

AU3716301

chr11:
3036946-3036946

G

T

intronic

De novo

-

Yuen2017 G

CARS

AU3702306

chr11:
3052765-3052765

A

G

intronic

De novo

-

Yuen2017 G

CARS

5-0073-003

chr11:
3106649-3106649

C

T

intergenic

De novo

-

Yuen2017 G

CARS

AU038204

chr11:
3103531-3103531

C

G

intergenic

De novo

-

Yuen2017 G

CARS

AU3859301

chr11:
3051708-3051708

G

A

intronic

De novo

-

Yuen2017 G

CARS

1-0446-003

chr11:
3100133-3100133

A

G

intergenic

De novo

-

Yuen2017 G

CARS

2-1093-003

chr11:
3045446-3045446

T

G

intronic

De 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 notes	View
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