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Results for "DLGAP2"

Variant Events: 54

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
DLGAP2     AU063005chr8:
892535-892535
AGncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-1627-003chr8:
1703484-1703484
AGintergenicDe novo--Yuen2017 G
DLGAP2     AU043804chr8:
1475503-1475503
GAintronicDe novo--Yuen2017 G
DLGAP2     1-0006-004chr8:
1613987-1613987
TCintronicDe novo--Yuen2017 G
DLGAP2     7-0256-003chr8:
1040643-1040643
GAncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0201-004chr8:
1699038-1699038
CTintergenicDe novo--Yuen2017 G
DLGAP2     12568.p1chr8:
1458953-1458953
ACintronicDe novo--Turner2016 G
DLGAP2     1-0564-003chr8:
864322-864334
CCTCTCTCTCTCTCCTCTCTCTCTncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0708-003chr8:
1615563-1615563
TTGCAintronicDe novo--Yuen2017 G
DLGAP2     12568.p1chr8:
1473768-1473768
CTintronicDe novo--Turner2016 G
DLGAP2     12568.p1chr8:
1477916-1477916
CTintronicDe novo--Turner2016 G
DLGAP2     AU2156303chr8:
1700662-1700662
GAintergenicDe novo--Yuen2017 G
DLGAP2     2-0129-004chr8:
745608-745608
GGAncRNA_intronicDe novo--Yuen2017 G
DLGAP2     AU3371301chr8:
1478555-1478555
GCintronicDe novo--Yuen2017 G
DLGAP2     AU4376301chr8:
1042970-1042970
CTncRNA_intronicDe novo--Yuen2017 G
DLGAP2     AU3371301chr8:
1484096-1484096
GCintronicDe novo--Yuen2017 G
DLGAP2     1-0289-004chr8:
1074009-1074009
TCncRNA_intronicDe novo--Yuen2017 G
DLGAP2     AU4392302chr8:
932485-932485
CGncRNA_intronicDe novo--Yuen2017 G
DLGAP2     A16chr8:
1645523-1645523
GAintronicDe novo--Wu2018 G
DLGAP2     2-1327-004chr8:
1060454-1060454
GGGGTCTGTGACGTGTGCATGTGCTTAncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-1306-004chr8:
1008146-1008146
AATTGACTAGCncRNA_intronicDe novo--Yuen2017 G
DLGAP2     5-0138-003chr8:
948111-948111
GAncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-1278-003chr8:
1088157-1088157
GAdownstreamDe novo--Yuen2016 G
Yuen2017 G
DLGAP2     2-1239-003chr8:
1030620-1030620
GCncRNA_intronicDe novo--Yuen2016 G
Yuen2017 G
DLGAP2     2-1288-003chr8:
853992-853992
CAncRNA_intronicDe novo--Yuen2017 G
DLGAP2     A3chr8:
769294-769294
TCncRNA_intronicDe novo--Wu2018 G
DLGAP2     1-0683-003chr8:
1619906-1619906
CAintronicDe novo--Yuen2017 G
DLGAP2     1-0203-004chr8:
1586587-1586587
CTintronicDe novo--Yuen2017 G
DLGAP2     1-0683-003chr8:
1581576-1581576
CGintronicDe novo--Yuen2017 G
DLGAP2     2-0503-004chr8:
780699-780699
TCncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0490-003chr8:
958811-958811
AGncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-1132-003chr8:
952927-952927
CTncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0683-003chr8:
1620929-1620929
GTintronicDe novo--Yuen2017 G
DLGAP2     AU4122301chr8:
800078-800078
ACncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-1085-004chr8:
1037467-1037467
CTncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0547-003chr8:
1660884-1660884
GAintergenicDe novo--Yuen2017 G
DLGAP2     2-1163-003chr8:
793417-793417
CGncRNA_intronicDe novo--Yuen2017 G
DLGAP2     11520.p1chr8:
1626547-1626547
GCexonicDe novononsynonymous SNVNM_001277161
NM_004745
c.G2174C
c.G2216C
p.R725T
p.R739T
19.73-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
DLGAP2     AU1940304chr8:
771471-771471
TGncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0874-003chr8:
689342-689342
AGncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-0007-004chr8:
713666-713666
GAncRNA_intronicDe novo--Yuen2017 G
DLGAP2     Cukier2014:37117chr8:
1624708-1624708
GCexonicUnknownnonsynonymous SNVNM_001277161
NM_004745
c.G1930C
c.G1972C
p.A644P
p.A658P
11.65-Cukier2014 E
DLGAP2     SSC02099chr8:
1626547-1626547
GCexonicDe novononsynonymous SNVNM_001277161
NM_004745
c.G2174C
c.G2216C
p.R725T
p.R739T
19.73-Lim2017 E
DLGAP2     1-0555-003chr8:
730595-730595
CTncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-0503-003chr8:
780699-780699
TCncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0345-003chr8:
1008146-1008146
AATTGACTAGCncRNA_intronicDe novo--Yuen2017 G
DLGAP2     2-1375-003chr8:
1076981-1076981
CTncRNA_intronicDe novo--Yuen2016 G
Yuen2017 G
DLGAP2     1-0715-003chr8:
1015943-1015943
CTncRNA_intronicDe novo--Yuen2017 G
DLGAP2     NDAR_INVYC885VDZ_wes1chr8:
1497496-1497496
AGexonicDe novononsynonymous SNVNM_001277161
NM_004745
c.A637G
c.A637G
p.M213V
p.M213V
0.015-DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DLGAP2     5-0077-003chr8:
712012-712012
CTncRNA_intronicDe novo--Yuen2017 G
DLGAP2     1-0677-003chr8:
906304-906304
TCncRNA_intronicDe novo--Yuen2017 G
DLGAP2     AU3912302chr8:
1664666-1664666
ATintergenicDe novo--Yuen2017 G
DLGAP2     1-0344-003chr8:
1708231-1708231
AGintergenicDe novo--Yuen2017 G
DLGAP2     1-0344-003chr8:
1706606-1706606
GCintergenicDe 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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