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Results for "DLGAP1"

Variant Events: 145

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
DLGAP1     1-0121-003chr18:
4331404-4331404
CTintronicDe novo--Yuen2017 G
DLGAP1     1-0841-003chr18:
4090227-4090227
AGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     AU054303chr18:
4769635-4769635
CTintergenicDe novo--Yuen2017 G
DLGAP1     1-0324-003chr18:
4359830-4359830
ACintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     AU045010chr18:
3912632-3912632
TAintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     1-0303-004chr18:
3839608-3839608
GAintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     3-0246-000chr18:
3677820-3677820
GAintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DLGAP1     11414.p1chr18:
4171942-4171942
AGintronicDe novo--Wilfert2021 G
DLGAP1     2-1428-003chr18:
4793331-4793344
GACACACACACACAGACACACACACAintergenicDe novo--Yuen2017 G
DLGAP1     AU072504chr18:
4063127-4063127
CAintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     AU1635302chr18:
4668222-4668222
GAintergenicDe novo--Yuen2017 G
DLGAP1     AU2793302chr18:
3810214-3810214
TCintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     AU3874302chr18:
5091689-5091689
CTintergenicDe novo--Yuen2017 G
DLGAP1     14022.p1chr18:
4670218-4670218
CGintergenicDe novo--Werling2018 G
DLGAP1     AU024607chr18:
3842953-3842953
CTintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     2-1120-003chr18:
4335194-4335194
AGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     AU1698302chr18:
4410544-4410544
TCintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     5-0077-003chr18:
3671529-3671540
GTTTTCCTGCTTGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     AU035604chr18:
3499254-3499254
GCexonicUnknownnonsynonymous SNVNM_001003809
NM_001242762
NM_001242764
NM_001242763
NM_001242766
NM_001308390
NM_004746
c.C1957G
c.C1915G
c.C1981G
c.C2029G
c.C1987G
c.C2011G
c.C2863G
p.R653G
p.R639G
p.R661G
p.R677G
p.R663G
p.R671G
p.R955G
23.7-Stessman2017 T
DLGAP1     1-0092-004chr18:
3787645-3787645
CCTintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     7-0044-003chr18:
3961168-3961170
CCTCCTTCTintronicDe novo--Yuen2017 G
DLGAP1     7-0143-003chr18:
5084154-5084154
TAintergenicDe novo--Yuen2017 G
DLGAP1     M18342chr18:
3729240-3729240
GAexonicUnknownnonsynonymous SNVNM_001003809
NM_001242762
NM_001242763
NM_001242764
NM_001242765
NM_001242766
NM_001308390
NM_001242761
NM_004746
c.C580T
c.C622T
c.C622T
c.C604T
c.C580T
c.C580T
c.C604T
c.C1486T
c.C1486T
p.R194W
p.R208W
p.R208W
p.R202W
p.R194W
p.R194W
p.R202W
p.R496W
p.R496W
22.0-Stessman2017 T
DLGAP1     2-1322-004chr18:
3695175-3695175
ACintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     SP0000238chr18:
3879457-3879457
CTexonicDe novosynonymous SNVNM_001242761
NM_004746
c.G612A
c.G612A
p.S204S
p.S204S
-8.394E-6Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
DLGAP1     7-0167-003chr18:
3578836-3578836
TCintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     M20647chr18:
3879576-3879576
CTexonicUnknownnonsynonymous SNVNM_001242761
NM_004746
c.G493A
c.G493A
p.G165R
p.G165R
23.9-Stessman2017 T
DLGAP1     M12526chr18:
3879645-3879645
CAexonicUnknownnonsynonymous SNVNM_001242761
NM_004746
c.G424T
c.G424T
p.V142L
p.V142L
31.0-Guo2018 T
Wang2016 T
DLGAP1     AU4024303chr18:
3738180-3738180
GAintronicDe novo--Yuen2017 G
DLGAP1     AU1078301chr18:
3874153-3874153
CTsplicingInheritedsplicing15.7-Stessman2017 T
DLGAP1     5-0030-003chr18:
4945118-4945118
CTintergenicDe novo--Yuen2017 G
DLGAP1     3506_17auchr18:
3580244-3580245
ACAintronicDe novo--Fu2022 E
DLGAP1     1-0862-003chr18:
3636793-3636793
CGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     1-0162-004chr18:
4296888-4296888
GAintronicDe novo--Yuen2017 G
DLGAP1     AU058105chr18:
4458780-4458780
TCintergenicDe novo--Yuen2017 G
DLGAP1     7-0077-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DLGAP1     7-0077-003chr18:
4917829-4917829
CTintergenicDe novo--Yuen2017 G
DLGAP1     211-5649-3chr18:
4151179-4151179
CAsplicingPaternalsplicing--Stessman2017 T
DLGAP1     1-0065-005chr18:
3618947-3618947
AACintronicDe novo--Yuen2017 G
DLGAP1     7-0097-003chr18:
5088438-5088438
GAintergenicDe novo--Yuen2017 G
DLGAP1     1-0203-003chr18:
5027931-5027931
CTintergenicDe novo--Yuen2017 G
DLGAP1     14-1775chr18:
3528462-3528462
CTintronicDe novo--Trost2022 G
DLGAP1     2-1408-003chr18:
4253399-4253399
AGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     1031chr18:
3542422-3542424
GAAGintronicDe novo--Trost2022 G
DLGAP1     2-0733-003chr18:
3523833-3523833
AGintronicDe novo--Trost2022 G
DLGAP1     1-1137-003chr18:
3527001-3527001
GAintronicDe novo--Trost2022 G
DLGAP1     MSSNG00197-003chr18:
3523651-3523651
CTintronicDe novo--Trost2022 G
DLGAP1     03C14737chr18:
3879854-3879854
CTexonicDe novononsynonymous SNVNM_001242761
NM_004746
c.G215A
c.G215A
p.R72H
p.R72H
32.0-Stessman2017 T
DLGAP1     2-0733-003chr18:
3523825-3523825
GAintronicDe novo--Trost2022 G
DLGAP1     1-0560-003chr18:
3583340-3583354
TTCTCTCTCTCTCTCTTCTCTCTCTCTCintronicDe novo--Yuen2017 G
DLGAP1     1-0569-003chr18:
4251766-4251766
CTintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     5-1001-003chr18:
3586308-3586308
CTintronicDe novo--Trost2022 G
DLGAP1     2J788chr18:
3502489-3502489
AGsplicing;exonicDe novononsynonymous SNVNM_001242765
NM_001242761
c.T1820C
c.T2726C
p.V607A
p.V909A
13.38-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DLGAP1     MSSNG00339-004chr18:
3567936-3567936
GAintronicDe novo--Trost2022 G
DLGAP1     AU3716302chr18:
4207054-4207054
AGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     2-0132-004chr18:
3572531-3572531
TCintronicDe novo--Trost2022 G
DLGAP1     A2chr18:
4416624-4416624
TAintronicDe novo--Wu2018 G
DLGAP1     5-0148-003chr18:
3601079-3601079
GTintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     1-0112-004chr18:
3636755-3636755
TCintronicDe novo--Trost2022 G
DLGAP1     5-0025-003chr18:
3636755-3636755
TCintronicDe novo--Trost2022 G
DLGAP1     5-0025-003chr18:
3636750-3636751
GAAGintronicDe novo--Trost2022 G
DLGAP1     1-0112-004chr18:
3636750-3636751
GAAGintronicDe novo--Trost2022 G
DLGAP1     2-1357-003chr18:
3772125-3772125
TTCTCintronicDe novo--Yuen2017 G
DLGAP1     1-0112-004chr18:
3636747-3636747
TGintronicDe novo--Trost2022 G
DLGAP1     5-0025-003chr18:
3636747-3636747
TGintronicDe novo--Trost2022 G
DLGAP1     03C16095chr18:
3499254-3499254
GCexonicUnknownnonsynonymous SNVNM_001003809
NM_001242762
NM_001242764
NM_001242763
NM_001242766
NM_001308390
NM_004746
c.C1957G
c.C1915G
c.C1981G
c.C2029G
c.C1987G
c.C2011G
c.C2863G
p.R653G
p.R639G
p.R661G
p.R677G
p.R663G
p.R671G
p.R955G
23.7-Stessman2017 T
DLGAP1     1-0876-003Achr18:
3611745-3611745
AGintronicDe novo--Trost2022 G
DLGAP1     GX0365.p1chr18:
3879776-3879776
CTexonicMaternalnonsynonymous SNVNM_001242761
NM_004746
c.G293A
c.G293A
p.R98H
p.R98H
32.01.685E-5Guo2018 T
DLGAP1     4-0040-003chr18:
3626747-3626748
ATAintronicDe novo--Trost2022 G
DLGAP1     2-1702-004chr18:
3650891-3650891
ACintronicDe novo--Trost2022 G
DLGAP1     REACH000643chr18:
3656178-3656178
TAintronicDe novo--Trost2022 G
DLGAP1     AU3888302chr18:
3611586-3611586
GAintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     2-1702-004chr18:
3650884-3650884
TAintronicDe novo--Trost2022 G
DLGAP1     2-1702-004chr18:
3650887-3650887
TCintronicDe novo--Trost2022 G
DLGAP1     2-0102-004chr18:
4069346-4069347
ATAintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     2-0132-004chr18:
3636847-3636849
TCACCGintronicDe novo--Trost2022 G
DLGAP1     2-0102-004chr18:
4024765-4024765
GGTCTintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     1-1160-003chr18:
3646383-3646383
TGintronicDe novo--Trost2022 G
DLGAP1     1-0112-004chr18:
3636761-3636765
CTTGATTCACCintronicDe novo--Trost2022 G
DLGAP1     5-0025-003chr18:
3636761-3636765
CTTGATTCACCintronicDe novo--Trost2022 G
DLGAP1     1-0218-004chr18:
3618665-3618665
GGGGGTintronicDe novo--Yuen2017 G
DLGAP1     1-0634-003chr18:
3753539-3753539
TCintronicDe novo--Trost2022 G
DLGAP1     2-1753-003chr18:
3755397-3755397
TCintronicDe novo--Trost2022 G
DLGAP1     3-0662-000chr18:
3731407-3731407
CGintronicDe novo--Trost2022 G
DLGAP1     4-0062-003chr18:
3753042-3753044
GAGAATintronicDe novo--Trost2022 G
DLGAP1     2-1391-004chr18:
3669137-3669141
AAGAATTTTTTTintronicDe novo--Trost2022 G
DLGAP1     2-0116-005chr18:
5132766-5132766
GAintergenicDe novo3.241-Yuen2017 G
DLGAP1     2-1493-003chr18:
3692605-3692606
CGACintronicDe novo--Trost2022 G
DLGAP1     REACH000643chr18:
3656180-3656180
AGintronicDe novo--Trost2022 G
DLGAP1     3-0080-000chr18:
4161513-4161513
TCintronicDe novo--Yuen2016 G
Yuen2017 G
DLGAP1     AU3849303chr18:
4026862-4026862
TCintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     SJD_58.3chr18:
3667412-3667412
CTintronicDe novo--Trost2022 G
DLGAP1     1-0169-003chr18:
3897959-3897961
TAAAATintronicDe novo--Trost2022 G
DLGAP1     14015.p1chr18:
3540760-3540760
CTintronicDe novo--Turner2016 G
DLGAP1     REACH000510chr18:
3935839-3935839
CTintronicDe novo--Trost2022 G
DLGAP1     REACH000364chr18:
3868306-3868306
TGintronicDe novo--Trost2022 G
DLGAP1     3-0833-000chr18:
3829777-3829777
GTintronicDe novo--Trost2022 G
DLGAP1     2-1401-003chr18:
3867059-3867059
GAintronicDe novo--Trost2022 G
DLGAP1     14496.p1chr18:
3614330-3614330
CTintronicDe novo--Turner2016 G
DLGAP1     2-0320-003chr18:
4593585-4593585
TCintergenicDe novo--Yuen2017 G
DLGAP1     1-1018-003chr18:
3794500-3794500
GAintronicDe novo--Trost2022 G
DLGAP1     13393.p1chr18:
4498347-4498347
CTintergenicDe novo--Turner2016 G
DLGAP1     MSSNG00374-003chr18:
3813634-3813634
CTintronicDe novo--Trost2022 G
DLGAP1     1-0138-004chr18:
4636397-4636397
GCintergenicDe novo--Yuen2017 G
DLGAP1     1-0104-003chr18:
3517720-3517720
CGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     Y7H4Lchr18:
3534477-3534477
GAexonicUnknownnonsynonymous SNVNM_001003809
NM_001242762
NM_001242764
NM_001242765
NM_001242763
NM_001242766
NM_001308390
NM_001242761
NM_004746
c.C1288T
c.C1246T
c.C1312T
c.C1288T
c.C1360T
c.C1318T
c.C1342T
c.C2194T
c.C2194T
p.R430C
p.R416C
p.R438C
p.R430C
p.R454C
p.R440C
p.R448C
p.R732C
p.R732C
19.298.241E-6Stessman2017 T
DLGAP1     MSSNG00355-004chr18:
3950742-3950742
CTintronicDe novo--Trost2022 G
DLGAP1     5-0028-003chr18:
4245537-4245537
TCintronicDe novo--Trost2022 G
DLGAP1     MSSNG00247-003chr18:
4249630-4249630
TCintronicDe novo--Trost2022 G
DLGAP1     7-0252-003chr18:
4113008-4113008
TCintronicDe novo--Trost2022 G
DLGAP1     03C19911chr18:
3874153-3874153
CTsplicingInheritedsplicing15.7-Stessman2017 T
DLGAP1     AU2687301chr18:
4235217-4235217
GAintronicDe novo--Trost2022 G
DLGAP1     AU2458302chr18:
4095224-4095224
AATintronicDe novo--Trost2022 G
DLGAP1     AU055603chr18:
4108625-4108625
CTintronicDe novo--Trost2022 G
DLGAP1     REACH000718chr18:
4018886-4018886
AGintronicDe novo--Trost2022 G
DLGAP1     9-0010-003chr18:
4027910-4027910
TCintronicDe novo--Trost2022 G
DLGAP1     MSSNG00006-004chr18:
4364693-4364693
GAintronicDe novo--Trost2022 G
DLGAP1     MT_17.3chr18:
4366757-4366758
ACAintronicDe novo--Trost2022 G
DLGAP1     1-0534-004chr18:
4355866-4355867
CCACAGintronicDe novo--Trost2022 G
DLGAP1     7-0337-004chr18:
4360555-4360555
TCintronicDe novo--Trost2022 G
DLGAP1     2-1306-004chr18:
4088901-4088901
AATGintronicDe novo--Yuen2017 G
DLGAP1     1-0628-003chr18:
4308129-4308145
AACTGAGGCTTATAGGGAintronicDe novo--Trost2022 G
DLGAP1     2-1302-003chr18:
5066903-5066903
GAintergenicDe novo--Yuen2017 G
DLGAP1     1-0936-003chr18:
4914769-4914769
GTintergenicDe novo--Yuen2017 G
DLGAP1     AU027506chr18:
4754095-4754095
ACintergenicDe novo--Yuen2017 G
DLGAP1     SP0062479chr18:
3656177-3656177
ACintronicDe novo--Fu2022 E
DLGAP1     3-0380-002chr18:
4451893-4451893
TGintronicDe novo--Trost2022 G
DLGAP1     SP0077930chr18:
3534395-3534395
GTexonicDe novononsynonymous SNVNM_001003809
NM_001242762
NM_001242764
NM_001242765
NM_001242763
NM_001242766
NM_001308390
NM_001242761
NM_004746
c.C1370A
c.C1328A
c.C1394A
c.C1370A
c.C1442A
c.C1400A
c.C1424A
c.C2276A
c.C2276A
p.T457K
p.T443K
p.T465K
p.T457K
p.T481K
p.T467K
p.T475K
p.T759K
p.T759K
15.57-Fu2022 E
Trost2022 G
Zhou2022 GE
DLGAP1     MSSNG00046-004chr18:
4406743-4406743
GAintronicDe novo--Trost2022 G
DLGAP1     610chr18:
4433506-4433506
AGintronicDe novo--Trost2022 G
DLGAP1     AU2463301chr18:
4369906-4369906
GAintronicDe novo--Trost2022 G
DLGAP1     MSSNG00258-003chr18:
4379149-4379149
CGintronicDe novo--Trost2022 G
DLGAP1     AU059903chr18:
4067370-4067395
GAGGAAGGAAGGAAGGAAGGAAGGAAGAGGAAGGAAGGAAGGAAGGAAintronicDe novo--Yuen2017 G
DLGAP1     2-0318-004chr18:
3706411-3706411
CTintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     7-0133-003chr18:
3618665-3618665
GGGGGTintronicDe novo--Yuen2017 G
DLGAP1     2-1422-003chr18:
4359943-4359943
AGintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DLGAP1     SP0022342chr18:
3874822-3874822
CTintronicDe novo--Fu2022 E
DLGAP1     1-0482-003chr18:
4890977-4890977
GCintergenicDe novo--Yuen2017 G
DLGAP1     AU057404chr18:
4873190-4873190
CAintergenicDe novo--Yuen2017 G
DLGAP1     AU3637301chr18:
4343176-4343176
AGintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     AU2137304chr18:
3859395-3859395
TCintronicDe novo--Trost2022 G
Yuen2017 G
DLGAP1     2-0299-005chr18:
3618947-3618947
AACAAACAAGCAAAAAACAAACAAACintronicDe novo--Yuen2017 G
DLGAP1     2-1230-003chr18:
4232203-4232203
GCintronicDe novo--Yuen2016 G
Yuen2017 G
DLGAP1     AU3808304chr18:
3497653-3497653
GAUTR3De novo--Trost2022 G
Yuen2017 G
DLGAP1     1-0032-003chr18:
3618943-3618943
AACAAAACAAACAAGCintronicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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