Variant Results

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Results for "KIAA1109"

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

KIAA1109

AU3302302

chr4:
123138447-123138447

C

A

intronic

De novo

-

-

Yuen2017 G

KIAA1109

SP0050637

chr4:
123113453-123113453

A

G

exonic

De novo

nonsynonymous SNV

NM_015312

c.A971G

p.D324G

17.68

-

Fu2022 E

KIAA1109

SP0021369

chr4:
123111235-123111238

GTAT

G

splicing

De novo

splicing

-

Fu2022 E

KIAA1109

NDAR_INVLA373KYF_wes1

chr4:
123165223-123165223

A

G

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

KIAA1109

7-0194-003

chr4:
123142087-123142087

C

A

intronic

De novo

-

-

Yuen2017 G

KIAA1109

SMHC01980s000

chr4:
123226049-123226049

G

A

exonic

De novo

nonsynonymous SNV

NM_015312

c.G9583A

p.A3195T

12.88

-

Yuan2023 E

KIAA1109

SP0051349

chr4:
123225967-123225967

G

A

exonic

De novo

synonymous SNV

NM_015312

c.G9501A

p.T3167T

7.749

Fu2022 E

KIAA1109

2-1152-003

chr4:
123109547-123109547

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

KIAA1109

PN400301

chr4:
123252539-123252539

C

T

exonic

Unknown

nonsynonymous SNV

NM_015312

c.C11308T

p.R3770C

33.0

Leblond2019 E

KIAA1109

AU3846302

chr4:
123235004-123235009

CCTACT

CCT

intronic

De novo

-

-

Yuen2017 G

KIAA1109

AU4029301

chr4:
123099953-123099953

C

A

intronic

De novo

-

-

Yuen2017 G

KIAA1109

DEASD_0042_001

chr4:
123140507-123140507

G

A

exonic

De novo

nonsynonymous SNV

NM_015312

c.G2260A

p.G754R

25.2

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

KIAA1109

AU3712301

chr4:
123182390-123182390

C

T

intronic

De novo

-

-

Yuen2017 G

KIAA1109

2-0300-004

chr4:
123108504-123108504

G

A

intronic

De novo

-

-

Yuen2017 G

KIAA1109

EGAN00001100925

chr4:
123237705-123237705

T

C

intronic

De novo

11.9

-

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
Curation notes	View
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