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Results for "DIP2A"

Variant Events: 38

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
DIP2A     1-0483-003chr21:
47969039-47969056
TTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTintronicDe novo--Yuen2017 G
DIP2A     13012.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.1706_1707insCTGGTCT
c.1823_1824insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1707_1708insCTGGTCT
c.1824_1825insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT
p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs
p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E
DIP2A     U5C5Lchr21:
47986571-47986571
CTexonicInheritedstopgainNM_001146116
NM_015151
c.C4426T
c.C4438T
p.R1476X
p.R1480X
45.01.653E-5Stessman2017 T
DIP2A     03C17126chr21:
47986534-47986534
GAexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.G4389A
c.G4401A
p.M1463I
p.M1467I
24.4-Stessman2017 T
DIP2A     Y4R4Mchr21:
47971600-47971600
GAexonicInheritednonsynonymous SNVNM_001146116
NM_015151
c.G2881A
c.G2893A
p.A961T
p.A965T
34.02.503E-5Stessman2017 T
DIP2A     Mahjani2021:143chr21:
47985660-47985660
ACexonicnonsynonymous SNVNM_001146116
NM_015151
c.A4187C
c.A4199C
p.Y1396S
p.Y1400S
19.38.335E-6Mahjani2021 E
DIP2A     13012.p1chr21:
47957426-47957426
GAexonicDe novostopgainNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.G1646A
c.G1763A
c.G1775A
c.G1775A
c.G1775A
c.G1775A
p.W549X
p.W588X
p.W592X
p.W592X
p.W592X
p.W592X
40.0-Willsey2013 E
DIP2A     G01-GEA-206-HIchr21:
47980694-47980694
CAexonicDe novononsynonymous SNVNM_001146116
NM_015151
c.C4017A
c.C4029A
p.D1339E
p.D1343E
22.3-Satterstrom2020 E
DIP2A     M23809chr21:
47969788-47969788
GAexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
NM_206889
c.G2615A
c.G2627A
c.G2627A
p.R872H
p.R876H
p.R876H
28.33.311E-5Stessman2017 T
DIP2A     GX0050.p1chr21:
47980662-47980662
GAexonicPaternalnonsynonymous SNVNM_001146116
NM_015151
c.G3985A
c.G3997A
p.V1329I
p.V1333I
35.0-Guo2018 T
DIP2A     GX0143.p1chr21:
47970534-47970534
GAexonicPaternalnonsynonymous SNVNM_001146116
NM_015151
c.G2704A
c.G2716A
p.G902R
p.G906R
31.02.545E-5Guo2018 T
DIP2A     214-17082-1chr21:
47985759-47985759
TGexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.T4286G
c.T4298G
p.L1429R
p.L1433R
27.8-Stessman2017 T
DIP2A     Mahjani2021:96chr21:
47976006-47976006
TCsplicingsplicing15.5-Mahjani2021 E
DIP2A     08C78396chr21:
47969804-47969804
CTexonicDe novosynonymous SNVNM_206889c.C2643Tp.G881G-4.986E-5Satterstrom2020 E
DIP2A     229592chr21:
47957357-47957357
AGsplicingInheritedsplicing15.93-Stessman2017 T
DIP2A     215-13111-1283chr21:
47958420-47958420
GAexonicUnknownnonsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.G1697A
c.G1814A
c.G1826A
c.G1826A
c.G1826A
c.G1826A
p.R566Q
p.R605Q
p.R609Q
p.R609Q
p.R609Q
p.R609Q
35.0-Stessman2017 T
DIP2A     J3P5S Complex Event; expand row to view variants  Unknownnonsynonymous SNVNM_001146116
NM_015151
NM_001146116
NM_015151
c.G4591T
c.G4603T
c.G4591A
c.G4603A
p.V1531L
p.V1535L
p.V1531M
p.V1535M
26.48.256E-6Stessman2017 T
Stessman2017 T
DIP2A     318661chr21:
47966883-47966883
GAexonicUnknownnonsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
c.G2321A
c.G2438A
c.G2450A
c.G2450A
c.G2450A
p.R774H
p.R813H
p.R817H
p.R817H
p.R817H
27.53.345E-5Stessman2017 T
DIP2A     AU3782303chr21:
47907466-47907466
AGintronicDe novo--Yuen2017 G
DIP2A     12388.p1chr21:
47975854-47975854
AGintronicMosaic, De novo--Dou2017 E
Satterstrom2020 E
DIP2A     217-14414-5230chr21:
47981687-47981687
CTexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.C4046T
c.C4058T
p.P1349L
p.P1353L
24.28.281E-6Stessman2017 T
DIP2A     Husson2020:301chr21:
47953562-47953562
TGsplicingMaternalsplicing19.38-Husson2020 E
DIP2A     M3Z4Qchr21:
47958398-47958398
CTexonicUnknownnonsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.C1675T
c.C1792T
c.C1804T
c.C1804T
c.C1804T
c.C1804T
p.R559W
p.R598W
p.R602W
p.R602W
p.R602W
p.R602W
17.02-Stessman2017 T
DIP2A     05C48980chr21:
47971556-47971556
CAexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.C2837A
c.C2849A
p.P946Q
p.P950Q
26.9-Stessman2017 T
DIP2A     AU0786305chr21:
47910609-47910609
CTexonicDe novononsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.C260T
c.C260T
c.C260T
c.C260T
c.C260T
c.C260T
p.S87L
p.S87L
p.S87L
p.S87L
p.S87L
p.S87L
14.11-Yuen2017 G
DIP2A     13106.p1chr21:
47957426-47957426
GAexonicDe novostopgainNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.G1646A
c.G1763A
c.G1775A
c.G1775A
c.G1775A
c.G1775A
p.W549X
p.W588X
p.W592X
p.W592X
p.W592X
p.W592X
40.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
DIP2A     215-13253-2793chr21:
47970643-47970643
GAexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.G2813A
c.G2825A
p.R938H
p.R942H
29.91.687E-5Stessman2017 T
DIP2A     AU1497302chr21:
47971556-47971556
CAexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.C2837A
c.C2849A
p.P946Q
p.P950Q
26.9-Stessman2017 T
DIP2A     M16119chr21:
47929170-47929170
GTexonicUnknownnonsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.G656T
c.G785T
c.G785T
c.G785T
c.G785T
c.G785T
p.G219V
p.G262V
p.G262V
p.G262V
p.G262V
p.G262V
18.011.68E-5Stessman2017 T
DIP2A     AU2950302chr21:
48012027-48012027
ATintergenicDe novo--Yuen2017 G
DIP2A     2-1567-004chr21:
47910199-47910199
AGintronicDe novo--Yuen2017 G
DIP2A     GX0179.p1chr21:
47970576-47970576
GAexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.G2746A
c.G2758A
p.G916R
p.G920R
32.08.345E-6Guo2018 T
DIP2A     M23169chr21:
47958483-47958483
GAexonicPaternalnonsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.G1760A
c.G1877A
c.G1889A
c.G1889A
c.G1889A
c.G1889A
p.R587H
p.R626H
p.R630H
p.R630H
p.R630H
p.R630H
34.03.877E-5Wang2016 T
DIP2A     219-2356-0001chr21:
47987382-47987386
GCTGGGexonicPaternalframeshift deletionNM_001146116
NM_015151
c.4552_4555del
c.4564_4567del
p.L1518fs
p.L1522fs
--Stessman2017 T
DIP2A     219-2343-1chr21:
47985714-47985714
TCexonicUnknownnonsynonymous SNVNM_001146116
NM_015151
c.T4241C
c.T4253C
p.L1414P
p.L1418P
26.3-Stessman2017 T
DIP2A     DEASD_0074_001chr21:
47976938-47976938
CTexonicDe novosynonymous SNVNM_001146116
NM_015151
c.C3573T
c.C3585T
p.L1191L
p.L1195L
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
DIP2A     Stessman2017:ASD_1022-1chr21:
47957453-47957453
GAsplicingInheritedsplicing26.8-Stessman2017 T
DIP2A     M21462chr21:
47958483-47958483
GAexonicMaternalnonsynonymous SNVNM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
c.G1760A
c.G1877A
c.G1889A
c.G1889A
c.G1889A
c.G1889A
p.R587H
p.R626H
p.R630H
p.R630H
p.R630H
p.R630H
34.03.877E-5Wang2016 T
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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