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Results for "KIRREL3"

Variant Events: 97

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
KIRREL3     1-0459-004chr11:
126399393-126399393
CTintronicDe novo--Yuen2017 G
KIRREL3     AU2072302chr11:
126339822-126339825
CAGACAintronicDe novo--Yuen2017 G
KIRREL3     2-0149-003chr11:
126383438-126383438
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     Li2017:16257chr11:
126310360-126310360
GAexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C1337T
c.C1337T
c.C1337T
p.P446L
p.P446L
p.P446L
36.03.458E-5Li2017 T
KIRREL3     M26986chr11:
126314949-126314949
CTexonicPaternalnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G1177A
c.G1177A
c.G1177A
p.A393T
p.A393T
p.A393T
30.03.318E-5Guo2018 T
Wang2016 T
KIRREL3     2-1093-009chr11:
126389841-126389841
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     AU4089302chr11:
126701555-126701555
TGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     PN400385chr11:
126301325-126301325
CAexonicUnknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 E
KIRREL3     74-0075chr11:
126293122-126293122
AGdownstreamDe novo--Michaelson2012 G
KIRREL3     2-0240-004chr11:
126757532-126757532
GAintronicDe novo--Yuen2017 G
KIRREL3     PN400488chr11:
126301325-126301325
CAexonicUnknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 E
KIRREL3     Li2017:17599chr11:
126333072-126333072
GAexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C722T
c.C722T
c.C722T
p.S241L
p.S241L
p.S241L
15.215.831E-5Li2017 T
KIRREL3     AU3811305chr11:
126740537-126740537
GAintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     2-0225-004chr11:
126838725-126838725
GCintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     PN400528chr11:
126301325-126301325
CAexonicInherited, Unknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 E
Leblond2019 E
KIRREL3     2-0145-003chr11:
126507475-126507475
GGAintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     MSSNG00202-003chr11:
126352965-126352965
CAintronicDe novo--Trost2022 G
KIRREL3     4-0085-003chr11:
126354820-126354820
CTintronicDe novo--Trost2022 G
KIRREL3     PN400556chr11:
126301325-126301325
CAexonicUnknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 E
KIRREL3     7-0485-003chr11:
126295062-126295062
CTintronicDe novo--Trost2022 G
KIRREL3     2-1801-003chr11:
126325588-126325588
GAintronicDe novo--Trost2022 G
KIRREL3     AU007503chr11:
126293122-126293122
AGdownstreamDe novo--Trost2022 G
KIRREL3     M16257chr11:
126310360-126310360
GAexonicMaternalnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C1337T
c.C1337T
c.C1337T
p.P446L
p.P446L
p.P446L
36.03.458E-5Guo2018 T
KIRREL3     5-0041-003chr11:
126598626-126598626
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     Li2017:27844chr11:
126316705-126316705
CAexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G1074T
c.G1074T
c.G1074T
p.W358C
p.W358C
p.W358C
21.1-Li2017 T
KIRREL3     MSSNG00329-004chr11:
126477236-126477237
TGTintronicDe novo--Trost2022 G
KIRREL3     08C76914chr11:
126333180-126333180
CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G614A
c.G614A
c.G614A
p.R205Q
p.R205Q
p.R205Q
25.41.687E-5Neale2012 E
KIRREL3     AU4145303chr11:
126859116-126859116
AGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     5-5022-003chr11:
126483426-126483426
GAintronicDe novo--Trost2022 G
KIRREL3     2-1781-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Trost2022 G
KIRREL3     MSSNG00217-003chr11:
126455093-126455093
CTintronicDe novo--Trost2022 G
KIRREL3     12644.p1chr11:
126343313-126343313
CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G482A
c.G482A
c.G482A
p.R161H
p.R161H
p.R161H
24.94.394E-5Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
KIRREL3     5-5217-003chr11:
126403735-126403735
CTintronicDe novo--Trost2022 G
KIRREL3     M19544chr11:
126310415-126310415
GTexonicPaternalnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C1282A
c.C1282A
c.C1282A
p.Q428K
p.Q428K
p.Q428K
33.06.043E-5Guo2018 T
KIRREL3     4-0090-003chr11:
126417306-126417306
CTintronicDe novo--Trost2022 G
KIRREL3     2-0503-003chr11:
126300371-126300371
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     1-1138-003chr11:
126657102-126657102
CGintronicDe novo--Trost2022 G
KIRREL3     7-0130-003chr11:
126788345-126788345
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     MSSNG00334-004chr11:
126669373-126669373
GAintronicDe novo--Trost2022 G
KIRREL3     MT_68.3chr11:
126578581-126578581
CTintronicDe novo--Trost2022 G
KIRREL3     5-0512-005chr11:
126647384-126647384
AGintronicDe novo--Trost2022 G
KIRREL3     MSSNG00421-006chr11:
126565612-126565612
ATintronicDe novo--Trost2022 G
KIRREL3     2-1788-003chr11:
126570902-126570902
CTintronicDe novo--Trost2022 G
KIRREL3     1-0292-005chr11:
126321055-126321057
CGTCintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     AU2022302chr11:
126763730-126763730
GTintronicDe novo--Yuen2017 G
KIRREL3     REACH000345chr11:
126760375-126760375
CGintronicDe novo--Trost2022 G
KIRREL3     2-1750-003chr11:
126779861-126779861
CAintronicDe novo--Trost2022 G
KIRREL3     REACH000292chr11:
126741024-126741024
AGintronicDe novo--Trost2022 G
KIRREL3     3-0278-000chr11:
126746600-126746600
AATintronicDe novo--Trost2022 G
KIRREL3     J4K7A_01chr11:
126730158-126730158
GAintronicDe novo--Trost2022 G
KIRREL3     PN400416chr11:
126301325-126301325
CAexonicUnknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 E
KIRREL3     MSSNG00332-003chr11:
126732378-126732378
TGintronicDe novo--Trost2022 G
KIRREL3     1-1051-003chr11:
126674342-126674342
CTintronicDe novo--Trost2022 G
KIRREL3     1-1135-003chr11:
126714252-126714252
CAintronicDe novo--Trost2022 G
KIRREL3     1424JS0003chr11:
126333180-126333180
CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G614A
c.G614A
c.G614A
p.R205Q
p.R205Q
p.R205Q
25.41.687E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KIRREL3     214-17025-1chr11:
126314933-126314933
CAexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G1193T
c.G1193T
c.G1193T
p.C398F
p.C398F
p.C398F
27.6-Stessman2017 T
KIRREL3     Li2017:19544chr11:
126310415-126310415
GTexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C1282A
c.C1282A
c.C1282A
p.Q428K
p.Q428K
p.Q428K
33.06.043E-5Li2017 T
KIRREL3     2-1823-003chr11:
126835385-126835385
GAintronicDe novo--Trost2022 G
KIRREL3     3-0842-000chr11:
126799357-126799357
CTintronicDe novo--Trost2022 G
KIRREL3     5-5123-005chr11:
126824758-126824758
CAintronicDe novo--Trost2022 G
KIRREL3     M20306chr11:
126314948-126314948
GAexonicMaternalnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C1178T
c.C1178T
c.C1178T
p.A393V
p.A393V
p.A393V
36.02.489E-5Guo2018 T
Wang2016 T
KIRREL3     1-0296-004chr11:
126292497-126292497
TGdownstreamDe novo--Trost2022 G
Yuen2017 G
KIRREL3     2-1605-003chr11:
126733511-126733511
TTAAintronicDe novo--Yuen2017 G
KIRREL3     13946.p1chr11:
126569180-126569180
GTintronicDe novo--Turner2016 G
KIRREL3     1-0161-003chr11:
126733553-126733553
TCintronicDe novo--Yuen2017 G
KIRREL3     SSC06043chr11:
126343313-126343313
CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G482A
c.G482A
c.G482A
p.R161H
p.R161H
p.R161H
24.94.394E-5Fu2022 E
Lim2017 E
Trost2022 G
KIRREL3     AU4159301chr11:
126713538-126713538
GTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     1-0403-004chr11:
126309742-126309742
AACintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     11729.p1chr11:
126352514-126352514
GAintronicDe novo--Wilfert2021 G
KIRREL3     AU4099301chr11:
126688433-126688433
TGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     216-4485-1chr11:
126333051-126333051
CTsplicingMaternalsplicing17.98-Stessman2017 T
KIRREL3     217-14123-2170chr11:
126326317-126326317
GAexonicMaternalstopgainNM_001161707
NM_001301097
NM_032531
c.C775T
c.C775T
c.C775T
p.Q259X
p.Q259X
p.Q259X
18.41-Stessman2017 T
KIRREL3     AU3964302chr11:
126493376-126493376
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     217-14183-2990chr11:
126306790-126306790
GAexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C1468T
c.C1468T
c.C1468T
p.R490W
p.R490W
p.R490W
19.377.53E-5Stessman2017 T
KIRREL3     5-0017-003chr11:
126733553-126733553
TCintronicDe novo--Yuen2017 G
KIRREL3     08C78417chr11:
126343313-126343313
CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G482A
c.G482A
c.G482A
p.R161H
p.R161H
p.R161H
24.94.394E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KIRREL3     SP0314188chr11:
126299147-126299147
CTexonicnonsynonymous SNVNM_001301097
NM_032531
c.G1697A
c.G1733A
p.R566Q
p.R578Q
36.08.317E-6Zhou2022 GE
KIRREL3     2-1408-004chr11:
126684334-126684334
AGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     2-1255-003chr11:
126343313-126343313
CTexonicDe novononsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.G482A
c.G482A
c.G482A
p.R161H
p.R161H
p.R161H
24.94.394E-5Yuen2016 G
KIRREL3     AU3808304chr11:
126706098-126706098
GTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     2-1421-003chr11:
126459269-126459269
GAintronicDe novo--Yuen2016 G
Yuen2017 G
KIRREL3     AU1668302chr11:
126750166-126750166
CTintronicDe novo--Yuen2017 G
KIRREL3     2-0503-004chr11:
126300371-126300371
CTintronicDe novo--Yuen2017 G
KIRREL3     AU3903301chr11:
126386481-126386481
AGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     Li2017:20306chr11:
126314948-126314948
GAexonicUnknownnonsynonymous SNVNM_001161707
NM_001301097
NM_032531
c.C1178T
c.C1178T
c.C1178T
p.A393V
p.A393V
p.A393V
36.02.489E-5Li2017 T
KIRREL3     AU3852301chr11:
126566690-126566690
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     AU4012302chr11:
126376077-126376077
TCintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     PN400116chr11:
126301325-126301325
CAexonicUnknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 E
KIRREL3     AU046707chr11:
126850795-126850795
GAintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     AU0638302chr11:
126320744-126320744
GCintronicDe novo--Yuen2017 G
KIRREL3     PN400272chr11:
126301325-126301325
CAexonicUnknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 E
KIRREL3     2-0109-003chr11:
126766088-126766088
AGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     AU4103301chr11:
126324297-126324297
CTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     1-0433-003chr11:
126784939-126784939
CGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     2-0244-004chr11:
126446181-126446182
TGTintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     1-0433-003chr11:
126732197-126732197
AGintronicDe novo--Trost2022 G
Yuen2017 G
KIRREL3     PN400564chr11:
126301325-126301325
CAexonicUnknownnonsynonymous SNVNM_001301097
NM_001161707
NM_032531
c.G1649T
c.G1685T
c.G1685T
p.R550L
p.R562L
p.R562L
32.0-Leblond2019 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 notesView
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