Variant Results

or

Results for "KIAA1522"

Variant Events: 11

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

KIAA1522

AU4476302

chr1:
33236770-33236770

C

T

exonic

De novo

nonsynonymous SNV

NM_001198972
NM_020888

c.C1813T
c.C1990T

p.P605S
p.P664S

15.75

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

KIAA1522

2-1415-004

chr1:
33214438-33214438

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1522

SP0105127

chr1:
33207706-33207706

G

T

exonic

De novo

nonsynonymous SNV

NM_020888

c.G151T

p.A51S

15.07

-

Fu2022 E
Trost2022 G
Zhou2022 GE

KIAA1522

079-05-103425

chr1:
33236102-33236102

A

AGCCGGAGAGT

exonic

De novo

frameshift insertion

NM_001198972
NM_020888

c.1145_1146insGCCGGAGAGT
c.1322_1323insGCCGGAGAGT

p.Q382fs
p.Q441fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIAA1522

DEASD_0340_001

chr1:
33236926-33236926

C

G

exonic

De novo

nonsynonymous SNV

NM_001198972
NM_020888

c.C1969G
c.C2146G

p.P657A
p.P716A

0.959

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

KIAA1522

SP0164498

chr1:
33236485-33236485

C

T

exonic

De novo

nonsynonymous SNV

NM_001198972
NM_020888

c.C1528T
c.C1705T

p.R510C
p.R569C

10.34

5.644E-5

Trost2022 G

KIAA1522

1-0079-008

chr1:
33216440-33216441

TC

AGTT

intronic

De novo

-

Trost2022 G

KIAA1522

MSSNG00067-003

chr1:
33213738-33213738

G

A

intronic

De novo

-

Trost2022 G

KIAA1522

2-1814-003

chr1:
33234723-33234723

C

T

intronic

De novo

-

Trost2022 G

KIAA1522

1-0119-004

chr1:
33211763-33211763

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

KIAA1522

1-0079-008

chr1:
33216447-33216447

G

CT

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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