Variant Results

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Results for "KIAA1958"

Variant Events: 15

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

KIAA1958

AU075803

chr9:
115371230-115371230

C

T

intronic

De novo

-

-

Yuen2017 G

KIAA1958

SSC04323

chr9:
115337394-115337394

A

G

exonic

De novo

nonsynonymous SNV

NM_001287036
NM_001287038
NM_133465

c.A1034G
c.A1034G
c.A1034G

p.H345R
p.H345R
p.H345R

8.419

-

Fu2022 E
Lim2017 E

KIAA1958

12392.p1

chr9:
115337394-115337394

A

G

exonic

De novo

nonsynonymous SNV

NM_001287036
NM_001287038
NM_133465

c.A1034G
c.A1034G
c.A1034G

p.H345R
p.H345R
p.H345R

8.419

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

KIAA1958

CC1090_202

chr9:
115337061-115337061

C

CA

exonic

De novo

frameshift insertion

NM_001287036
NM_001287038
NM_133465

c.702dupA
c.702dupA
c.702dupA

p.A234fs
p.A234fs
p.A234fs

-

-

Fu2022 E

KIAA1958

2-1186-003

chr9:
115433394-115433394

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIAA1958

1-0701-003

chr9:
115354355-115354355

G

A

intronic

De novo

-

-

Yuen2017 G

KIAA1958

2-0129-005

chr9:
115369402-115369402

C

T

intronic

De novo

-

-

Yuen2017 G

KIAA1958

2-1444-003

chr9:
115352549-115352549

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIAA1958

2-0304-003

chr9:
115437877-115437877

A

G

intergenic

De novo

-

-

Yuen2017 G

KIAA1958

3-0469-000

chr9:
115412860-115412860

T

C

intronic

De novo

-

-

Yuen2017 G

KIAA1958

CC1090.202

chr9:
115337061-115337061

C

CA

exonic

De novo

frameshift insertion

NM_001287036
NM_001287038
NM_133465

c.702dupA
c.702dupA
c.702dupA

p.A234fs
p.A234fs
p.A234fs

-

-

Satterstrom2020 E

KIAA1958

SP0004146

chr9:
115380483-115380483

C

T

intronic

De novo

36.0

-

Fu2022 E

KIAA1958

SP0047725

chr9:
115380396-115380396

G

C

intronic

De novo

18.63

-

Fu2022 E

KIAA1958

5-0110-003

chr9:
115404721-115404721

G

A

intronic

De novo

-

-

Yuen2017 G

KIAA1958

SP0000938

chr9:
115337083-115337083

C

T

exonic

De novo

synonymous SNV

NM_001287036
NM_001287038
NM_133465

c.C723T
c.C723T
c.C723T

p.H241H
p.H241H
p.H241H

-

Fu2022 E

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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