Variant Results

or

Results for "KIAA0232"

Variant Events: 12

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

KIAA0232

12653.p1

chr4:
6843914-6843914

C

T

exonic

De novo

stopgain

NM_001100590
NM_014743

c.C352T
c.C352T

p.R118X
p.R118X

42.0

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E

KIAA0232

7-0080-003

chr4:
6838670-6838670

T

C

intronic

De novo

-

Yuen2017 G

KIAA0232

AU3874302

chr4:
6845591-6845591

A

G

intronic

De novo

-

Yuen2017 G

KIAA0232

AU050704

chr4:
6893421-6893421

C

G

intergenic

De novo

-

Yuen2017 G

KIAA0232

AU005214

chr4:
6793813-6793813

G

T

intronic

De novo

-

Yuen2017 G

KIAA0232

2-1437-003

chr4:
6784097-6784097

C

T

upstream

De novo

-

Yuen2017 G

KIAA0232

13171.p1

chr4:
6902296-6902296

G

C

intergenic

De novo

-

Turner2016 G

KIAA0232

2-0063-005

chr4:
6858450-6858450

C

T

intronic

De novo

-

Yuen2017 G

KIAA0232

2-0006-003

chr4:
6829305-6829305

G

A

intronic

De novo

-

Yuen2017 G

KIAA0232

SP0013369

chr4:
6862970-6862970

G

A

exonic

De novo

synonymous SNV

NM_001100590
NM_014743

c.G861A
c.G861A

p.S287S
p.S287S

-

2.498E-5

Fu2022 E

KIAA0232

SSC06116

chr4:
6843914-6843914

C

T

exonic

De novo

stopgain

NM_001100590
NM_014743

c.C352T
c.C352T

p.R118X
p.R118X

42.0

-

Antaki2022 GE
Fu2022 E
Lim2017 E

KIAA0232

2K784

chr4:
6865852-6865853

CA

C

exonic

De novo

frameshift deletion

NM_001100590
NM_014743

c.3744delA
c.3744delA

p.A1248fs
p.A1248fs

-

Fu2022 E
Satterstrom2020 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
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