Variant Results

or

Results for "KIAA0586"

Variant Events: 42

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

KIAA0586

JASD_Fam0062

chr14:
58965637-58965637

G

A

exonic

De novo

nonsynonymous SNV

NM_001244193
NM_014749
NM_001244191
NM_001244190
NM_001244192
NM_001244189

c.G3707A
c.G3899A
c.G3872A
c.G4082A
c.G3995A
c.G4286A

p.C1236Y
p.C1300Y
p.C1291Y
p.C1361Y
p.C1332Y
p.C1429Y

7.047

-

Takata2018 E

KIAA0586

11348.p1

chr14:
58895068-58895068

A

G

exonic

De novo

nonsynonymous SNV

NM_014749
NM_001244189
NM_001244190

c.A86G
c.A122G
c.A41G

p.H29R
p.H41R
p.H14R

8.19

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

KIAA0586

iHART1824

chr14:
58923419-58923419

G

C

splicing

Maternal

splicing

9.447

7.866E-5

Ruzzo2019 G

KIAA0586

iHART1618

chr14:
58895075-58895075

T

TC

exonic

Maternal

frameshift insertion

NM_014749
NM_001244189
NM_001244190

c.94dupC
c.130dupC
c.49dupC

p.D31fs
p.D43fs
p.D16fs

-

3.0E-4

Ruzzo2019 G

KIAA0586

11229.p1

chr14:
58954766-58954766

G

C

exonic

De novo

nonsynonymous SNV

NM_001244193
NM_014749
NM_001244191
NM_001244190
NM_001244192
NM_001244189

c.G3046C
c.G3238C
c.G3211C
c.G3421C
c.G3334C
c.G3625C

p.D1016H
p.D1080H
p.D1071H
p.D1141H
p.D1112H
p.D1209H

18.4

2.0E-4

Satterstrom2020 E

KIAA0586

2-1644-003

chr14:
58937301-58937305

CAGAA

C

intronic

De novo

-

1.271E-5

Trost2022 G
Yuen2017 G

KIAA0586

AU060004

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

KIAA0586

AU4444304

chr14:
59055341-59055341

C

T

intergenic

De novo

-

Yuen2017 G

KIAA0586

mAGRE1824

chr14:
58923419-58923419

G

C

splicing

Maternal

splicing

9.447

7.866E-5

Cirnigliaro2023 G

KIAA0586

1-0862-003

chr14:
58944858-58944858

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0586

AU2075301

chr14:
59061251-59061251

G

T

intergenic

De novo

-

Yuen2017 G

KIAA0586

MSSNG00031-004

chr14:
58894152-58894152

C

G

UTR5

De novo

-

Trost2022 G
Trost2022 G

KIAA0586

AU2292302

chr14:
59040907-59040907

G

A

intergenic

De novo

-

Yuen2017 G

KIAA0586

2-1731-003

chr14:
59030437-59030437

C

T

intergenic

De novo

-

Yuen2017 G

KIAA0586

7-0024-005

chr14:
58912877-58912877

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0586

6244

chr14:
58954766-58954766

G

C

exonic

De novo

nonsynonymous SNV

NM_001244193
NM_014749
NM_001244191
NM_001244190
NM_001244192
NM_001244189

c.G3046C
c.G3238C
c.G3211C
c.G3421C
c.G3334C
c.G3625C

p.D1016H
p.D1080H
p.D1071H
p.D1141H
p.D1112H
p.D1209H

18.4

2.0E-4

Trost2022 G

KIAA0586

2-1475-003

chr14:
58915756-58915756

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0586

MSSNG00053-003

chr14:
58962697-58962697

A

T

intronic

De novo

-

Trost2022 G

KIAA0586

MT_17.3

chr14:
58925630-58925630

A

G

intronic

De novo

-

Trost2022 G

KIAA0586

MSSNG00405-003

chr14:
58935363-58935363

C

G

intronic

De novo

-

Trost2022 G

KIAA0586

AU2029301

chr14:
59076269-59076269

T

C

intergenic

De novo

-

Yuen2017 G

KIAA0586

AU2292301

chr14:
59040907-59040907

G

A

intergenic

De novo

-

Yuen2017 G

KIAA0586

35849

chr14:
58895068-58895068

A

G

exonic

De novo

nonsynonymous SNV

NM_014749
NM_001244189
NM_001244190

c.A86G
c.A122G
c.A41G

p.H29R
p.H41R
p.H14R

8.19

-

Fu2022 E
Trost2022 G

KIAA0586

5-0020-003

chr14:
58900551-58900551

T

C

intronic

De novo

-

Trost2022 G

KIAA0586

1-0412-003

chr14:
59044071-59044071

C

T

intergenic

De novo

-

Yuen2017 G

KIAA0586

MSSNG00444-003

chr14:
58902213-58902213

C

T

intronic

De novo

-

Trost2022 G

KIAA0586

1018

chr14:
58894525-58894526

TG

T

intronic

De novo

-

Trost2022 G
Trost2022 G

KIAA0586

SP0177493

chr14:
58894913-58894913

T

G

UTR5

De novo

-

Trost2022 G
Trost2022 G

KIAA0586

MSSNG00004-003

chr14:
58992656-58992656

C

T

intronic

De novo

-

Trost2022 G

KIAA0586

AU2293301

chr14:
59020837-59020837

A

G

intergenic

De novo

-

Yuen2017 G

KIAA0586

MSSNG00041-004

chr14:
58977117-58977117

A

C

intronic

De novo

-

Trost2022 G

KIAA0586

11456.p1

chr14:
58951396-58951396

G

C

intronic

De novo

-

Turner2016 G

KIAA0586

Lim2017:35849

chr14:
58895068-58895068

A

G

exonic

De novo

nonsynonymous SNV

NM_014749
NM_001244189
NM_001244190

c.A86G
c.A122G
c.A41G

p.H29R
p.H41R
p.H14R

8.19

-

Lim2017 E

KIAA0586

MSSNG00384-003

chr14:
58983537-58983538

CA

C

intronic

De novo

-

Trost2022 G

KIAA0586

SP0150669

chr14:
58965518-58965518

G

C

exonic

De novo

synonymous SNV

NM_001244193
NM_014749
NM_001244191
NM_001244190
NM_001244192
NM_001244189

c.G3588C
c.G3780C
c.G3753C
c.G3963C
c.G3876C
c.G4167C

p.V1196V
p.V1260V
p.V1251V
p.V1321V
p.V1292V
p.V1389V

-

Trost2022 G

KIAA0586

3-0728-000

chr14:
58975978-58975978

A

G

intronic

De novo

-

Trost2022 G

KIAA0586

1-0065-005

chr14:
58903544-58903544

A

ACT

intronic

De novo

-

Yuen2017 G

KIAA0586

1-0556-003

chr14:
58967579-58967579

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0586

AU054303

chr14:
58959519-58959519

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA0586

SP0040514

chr14:
58932525-58932525

A

AAATATTGTTAG

intronic

De novo

-

Fu2022 E

KIAA0586

SP0015924

chr14:
58932714-58932714

G

A

exonic

nonsynonymous SNV

NM_001244193
NM_014749
NM_001244191
NM_001244190
NM_001244192
NM_001244189

c.G1801A
c.G1993A
c.G1966A
c.G2176A
c.G2089A
c.G2380A

p.E601K
p.E665K
p.E656K
p.E726K
p.E697K
p.E794K

19.64

-

Zhou2022 GE

KIAA0586

AU1764301

chr14:
58908209-58908209

G

A

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
	More