Variant Results

or

Results for "CA2"

Variant Events: 13

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

CA2

1-0214-003

chr8:
86522120-86522120

C

T

intergenic

De novo

-

Yuen2017 G

CA2

5-0106-003

chr8:
86522852-86522853

AC

A

intergenic

De novo

-

Yuen2017 G

CA2

2-1237-003

chr8:
86388247-86388247

G

A

intronic

De novo

-

Yuen2017 G

CA2

AU-10501

chr8:
86377699-86377699

G

A

splicing

24.6

1.039E-5

Doan2019 E

CA2

13630.p1

chr8:
86392904-86392904

G

A

exonic

Mosaic, De novo

synonymous SNV

NM_001293675
NM_000067

c.G366A
c.G669A

p.L122L
p.L223L

-

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

CA2

AU1308303

chr8:
86525188-86525188

T

C

intergenic

De novo

-

Yuen2017 G

CA2

2-0256-004

chr8:
86522936-86522936

T

C

intergenic

De novo

-

Yuen2017 G

CA2

NDAR_INVEY051YHZ_wes1

chr8:
86377699-86377699

G

A

splicing

24.6

1.039E-5

Doan2019 E

CA2

AU3698301

chr8:
86399005-86399005

T

C

intergenic

De novo

-

Yuen2017 G

CA2

1-0304-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

CA2

AU3302302

chr8:
86527895-86527895

G

C

intergenic

De novo

-

Yuen2017 G

CA2

SSC08980

chr8:
86392904-86392904

G

A

exonic

De novo

synonymous SNV

NM_001293675
NM_000067

c.G366A
c.G669A

p.L122L
p.L223L

-

Fu2022 E
Lim2017 E

CA2

1-0065-004

chr8:
86508072-86508072

G

GCCA

intergenic

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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