Variant Results

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Results for "INO80"

Variant Events: 19

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

INO80

1-0332-003

chr15:
41298286-41298286

C

T

intronic

De novo

-

-

Yuen2017 G

INO80

1-0257-003

chr15:
41304624-41304624

C

T

intronic

De novo

-

-

Yuen2017 G

INO80

AU4487302

chr15:
41438656-41438656

G

A

intergenic

De novo

-

-

Yuen2017 G

INO80

AU056803

chr15:
41280071-41280071

G

A

exonic

De novo

synonymous SNV

NM_017553

c.C3672T

p.L1224L

-

Yuen2017 G

INO80

1-0706-003

chr15:
41378167-41378167

C

G

intronic

De novo

-

-

Yuen2017 G

INO80

74-0765

chr15:
41384317-41384317

C

G

exonic

Inherited

nonsynonymous SNV

NM_017553

c.G445C

p.E149Q

13.39

Patowary2019 E

INO80

06C59212

chr15:
41387880-41387880

C

T

intronic

De novo

-

-

Satterstrom2020 E

INO80

08C75098

chr15:
41348905-41348905

C

A

splicing

De novo

splicing

17.62

-

Fu2022 E
Satterstrom2020 E

INO80

14003.p1

chr15:
41289811-41289813

GGA

G

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

INO80

12924.p1

chr15:
41379812-41379812

C

T

exonic

De novo

synonymous SNV

NM_017553

c.G606A

p.R202R

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

INO80

12175.p1

chr15:
41293407-41293407

C

A

intronic

De novo

-

-

Turner2016 G

INO80

AU051503

chr15:
41401507-41401507

C

G

intronic

De novo

-

-

Yuen2017 G

INO80

2-1460-003

chr15:
41321961-41321961

C

G

intronic

De novo

-

-

Yuen2017 G

INO80

AU072005

chr15:
41353263-41353263

G

A

intronic

De novo

-

-

Yuen2017 G

INO80

1-0368-004

chr15:
41358454-41358454

G

A

intronic

De novo

-

-

Yuen2017 G

INO80

SSC06501

chr15:
41379812-41379812

C

T

exonic

De novo

synonymous SNV

NM_017553

c.G606A

p.R202R

-

Fu2022 E
Lim2017 E

INO80

5-0050-004

chr15:
41439146-41439146

C

T

intergenic

De novo

-

-

Yuen2017 G

INO80

2-1116-003

chr15:
41282859-41282859

A

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

INO80

7-0024-005

chr15:
41471240-41471240

G

A

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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