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Results for "KIAA1109"

Variant Events: 34

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     SP0050637chr4:
123113453-123113453
AGexonicDe novononsynonymous SNVNM_015312c.A971Gp.D324G17.68-Fu2022 E
Trost2022 G
Zhou2022 GE
KIAA1109     SP0021369chr4:
123111235-123111238
GTATGsplicingDe novosplicing-8.305E-6Fu2022 E
Zhou2022 GE
KIAA1109     NDAR_INVLA373KYF_wes1chr4:
123165223-123165223
AGintronicDe novo-0.0015Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
KIAA1109     SMHC01980s000chr4:
123226049-123226049
GAexonicDe novononsynonymous SNVNM_015312c.G9583Ap.A3195T12.88-Yuan2023 E
KIAA1109     SP0051349chr4:
123225967-123225967
GAexonicDe novosynonymous SNVNM_015312c.G9501Ap.T3167T7.7498.299E-6Fu2022 E
Trost2022 G
Zhou2022 GE
KIAA1109     SP0012108chr4:
123103842-123103842
CTintronicDe novo--Trost2022 G
KIAA1109     AU3846302chr4:
123235004-123235009
CCTACTCCTintronicDe novo--Yuen2017 G
KIAA1109     AU4029301chr4:
123099953-123099953
CAintronicDe novo--Trost2022 G
Yuen2017 G
KIAA1109     MT_95.3chr4:
123170466-123170466
CTintronicDe novo--Trost2022 G
KIAA1109     mAGRE5763chr4:
123283312-123283317
GGACAAGexonicPaternalframeshift deletionNM_015312c.14929_14933delp.D4977fs--Cirnigliaro2023 G
KIAA1109     DEASD_0042_001chr4:
123140507-123140507
GAexonicDe novononsynonymous SNVNM_015312c.G2260Ap.G754R25.2-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KIAA1109     7-0352-003chr4:
123183123-123183123
CGintronicDe novo--Trost2022 G
KIAA1109     mAGRE5762chr4:
123283312-123283317
GGACAAGexonicPaternalframeshift deletionNM_015312c.14929_14933delp.D4977fs--Cirnigliaro2023 G
KIAA1109     SP0203198chr4:
123158196-123158196
CTintronicDe novo--Trost2022 G
KIAA1109     mAGRE5703chr4:
123159333-123159333
CTexonicPaternalstopgainNM_015312c.C3661Tp.Q1221X39.01.657E-5Cirnigliaro2023 G
KIAA1109     SP0026099chr4:
123169000-123169000
TCintronicDe novo--Trost2022 G
KIAA1109     mAGRE5701chr4:
123159333-123159333
CTexonicPaternalstopgainNM_015312c.C3661Tp.Q1221X39.01.657E-5Cirnigliaro2023 G
KIAA1109     SP0016433chr4:
123135315-123135315
AATintronicDe novo--Trost2022 G
KIAA1109     2-0300-004chr4:
123108504-123108504
GAintronicDe novo--Yuen2017 G
KIAA1109     EGAN00001100925chr4:
123237705-123237705
TCintronicDe novo11.9-Fu2022 E
Satterstrom2020 E
Trost2022 G
KIAA1109     MSSNG00101-003chr4:
123139979-123139979
GAintronicDe novo--Trost2022 G
KIAA1109     MSSNG00204-003chr4:
123105078-123105078
AATintronicDe novo--Trost2022 G
KIAA1109     SP0172504chr4:
123129573-123129573
TCintronicDe novo--Trost2022 G
KIAA1109     AU3302302chr4:
123138447-123138447
CAintronicDe novo--Trost2022 G
Yuen2017 G
KIAA1109     7-0459-003chr4:
123244592-123244592
CGintronicDe novo--Trost2022 G
KIAA1109     2-1359-005chr4:
123276966-123276966
GAexonicDe novononsynonymous SNVNM_015312c.G14321Ap.R4774H28.9-Trost2022 G
Zhou2022 GE
KIAA1109     3-0648-000chr4:
123185854-123185854
GAintronicDe novo--Trost2022 G
KIAA1109     7-0194-003chr4:
123142087-123142087
CAintronicDe novo--Yuen2017 G
KIAA1109     1-1058-004chr4:
123236052-123236052
CTintronicDe novo--Trost2022 G
KIAA1109     SP0008570chr4:
123184085-123184085
GAexonicDe novononsynonymous SNVNM_015312c.G6929Ap.G2310D20.7-Trost2022 G
KIAA1109     7-0189-003chr4:
123185695-123185695
AGintronicDe novo--Trost2022 G
KIAA1109     2-1152-003chr4:
123109547-123109547
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
KIAA1109     PN400301chr4:
123252539-123252539
CTexonicUnknownnonsynonymous SNVNM_015312c.C11308Tp.R3770C33.00.0012Leblond2019 E
KIAA1109     AU3712301chr4:
123182390-123182390
CTintronicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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