Variant Results

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Results for "KIAA1468"

Variant Events: 16

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

KIAA1468

111316

chr18:
59949588-59949588

A

G

exonic

nonsynonymous SNV

NM_020854

c.A3164G

p.Q1055R

26.2

-

Woodbury-Smith2022 E

KIAA1468

2-1184-003

chr18:
59966125-59966125

T

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIAA1468

2-1389-003

chr18:
59919870-59919870

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2016 G
Yuen2017 G

KIAA1468

AU024606

chr18:
59984911-59984913

AGG

AG

intergenic

De novo

-

-

Yuen2017 G

KIAA1468

1-0181-004

chr18:
59951191-59951191

T

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

KIAA1468

SP0034572

chr18:
59954608-59954608

T

C

exonic

nonsynonymous SNV

NM_020854

c.T3278C

p.L1093S

24.5

-

Antaki2022 GE

KIAA1468

7-0188-003

chr18:
59978473-59978473

A

G

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

KIAA1468

SP0127097

chr18:
59888593-59888593

G

A

intronic

De novo

-

-

Fu2022 E

KIAA1468

REACH000092

chr18:
59969425-59969425

C

T

intronic

De novo

-

-

Trost2022 G

KIAA1468

MT_70.3

chr18:
59934251-59934251

T

C

intronic

De novo

-

-

Trost2022 G

KIAA1468

Cukier2014:7663

chr18:
59854886-59854886

G

A

exonic

Unknown

nonsynonymous SNV

NM_020854

c.G148A

p.G50S

24.3

Cukier2014 E

KIAA1468

3-0102-000

chr18:
59951857-59951860

TGAA

T

intronic

De novo

-

-

Trost2022 G

KIAA1468

21165-33301

chr18:
59899583-59899583

A

G

exonic

Inherited

nonsynonymous SNV

NM_020854

c.A1543G

p.S515G

24.4

-

Callaghan2019 G

KIAA1468

111302

chr18:
59931269-59931269

A

G

exonic

nonsynonymous SNV

NM_020854

c.A2398G

p.I800V

24.7

Woodbury-Smith2022 E

KIAA1468

AU2109302

chr18:
59976300-59976300

G

A

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

KIAA1468

1-1084-003

chr18:
59869818-59869818

A

G

intronic

De novo

-

-

Trost2022 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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