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Results for "DIP2B"

Variant Events: 47

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
DIP2B     AU1355301chr12:
51085855-51085855
TAintronicDe novo--Trost2022 G
Yuen2017 G
DIP2B     iHART1312chr12:
51118670-51118670
GAsplicingMaternalsplicing27.2-Ruzzo2019 G
DIP2B     A27chr12:
51079635-51079635
TCexonicDe novononsynonymous SNVNM_173602c.T1337Cp.I446T20.88.258E-6Wu2018 G
DIP2B     AU026604chr12:
51107211-51107211
GCintronicDe novo--Trost2022 G
Yuen2017 G
DIP2B     2-1605-004chr12:
50958977-50958977
GAintronicDe novo--Trost2022 G
Yuen2017 G
DIP2B     Li2017:23785chr12:
51034600-51034600
GAexonicUnknownnonsynonymous SNVNM_173602c.G266Ap.R89Q28.18.248E-6Li2017 T
DIP2B     3909_17auchr12:
51054166-51054166
GAintronicDe novo--Fu2022 E
DIP2B     ASDFI_729chr12:
51069223-51069223
TAexonicDe novononsynonymous SNVNM_173602c.T908Ap.I303N19.29-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DIP2B     A15chr12:
51089057-51089057
TGexonicDe novononsynonymous SNVNM_173602c.T1727Gp.M576R16.82-Wu2018 G
DIP2B     1-0673-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
DIP2B     A11chr12:
51133277-51133277
GAexonicDe novononsynonymous SNVNM_173602c.G4262Ap.R1421H18.652.472E-5Wu2018 G
DIP2B     11341.p1chr12:
50973951-50973951
GTintronicDe novo--Turner2016 G
DIP2B     AU031203chr12:
51000518-51000518
AGintronicDe novo--Trost2022 G
Yuen2017 G
DIP2B     GEA456chr12:
51125223-51125223
CGexonicDe novononsynonymous SNVNM_173602c.C3713Gp.S1238C13.41-Fu2022 E
DIP2B     MSSNG00045-004chr12:
50926609-50926609
GAintronicDe novo--Trost2022 G
DIP2B     7-0332-003chr12:
50940059-50940059
AGintronicDe novo--Trost2022 G
DIP2B     DEASD_1095_001chr12:
51097940-51097940
TCexonicDe novosynonymous SNVNM_173602c.T2343Cp.S781S--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DIP2B     Hu2022:10chr12:
51128855-51128855
GAsplicingUnknownsplicing19.79-Hu2022 T
DIP2B     3-0202-000chr12:
50902979-50902979
GAintronicDe novo--Trost2022 G
DIP2B     AU4032306chr12:
50993593-50993593
AGintronicDe novo--Trost2022 G
Yuen2017 G
DIP2B     7-0328-003chr12:
51034818-51034818
AGintronicDe novo--Trost2022 G
DIP2B     1-0139-005chr12:
51081867-51081867
CAintronicDe novo--Yuen2017 G
DIP2B     Hu2022:66chr12:
51068356-51068356
TCexonicUnknownnonsynonymous SNVNM_173602c.T740Cp.I247T6.658-Hu2022 T
DIP2B     4-0049-003chr12:
51036774-51036774
CTintronicDe novo--Trost2022 G
DIP2B     1-0139-005chr12:
51039477-51039477
AGintronicDe novo--Yuen2017 G
DIP2B     2-1809-003chr12:
50997536-50997536
AGintronicDe novo--Trost2022 G
DIP2B     mAGRE5328chr12:
51122400-51122400
CTexonicMaternalstopgainNM_173602c.C3580Tp.Q1194X42.0-Cirnigliaro2023 G
DIP2B     REACH000198chr12:
51019127-51019127
TCintronicDe novo--Trost2022 G
DIP2B     mAGRE1312chr12:
51118670-51118670
GAsplicingMaternalsplicing27.2-Cirnigliaro2023 G
DIP2B     AU4007302chr12:
51104948-51104948
TGintronicDe novo--Trost2022 G
Yuen2017 G
DIP2B     Hu2022:63chr12:
51074491-51074491
CTexonicUnknownnonsynonymous SNVNM_173602c.C1151Tp.T384I28.6-Hu2022 T
DIP2B     5-0085-003chr12:
50979625-50979625
AGintronicDe novo--Trost2022 G
DIP2B     1018chr12:
50993827-50993827
CGintronicDe novo--Trost2022 G
DIP2B     5-2015-003chr12:
50963872-50963872
TCintronicDe novo--Trost2022 G
DIP2B     MSSNG00037-003chr12:
50967204-50967204
CTintronicDe novo--Trost2022 G
DIP2B     SP0207151chr12:
51138373-51138373
CTexonicDe novosynonymous SNVNM_173602c.C4482Tp.A1494A-3.296E-5Trost2022 G
DIP2B     1-0628-004Achr12:
51124143-51124143
GTintronicDe novo--Trost2022 G
DIP2B     1-0753-003chr12:
51126775-51126775
ATintronicDe novo--Trost2022 G
DIP2B     SP0228933chr12:
51112697-51112697
ATintronicDe novo--Trost2022 G
DIP2B     336-06-106561chr12:
51065023-51065023
CTexonicDe novononsynonymous SNVNM_173602c.C482Tp.S161F17.36-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DIP2B     1-0738-003chr12:
51119661-51119661
GTintronicDe novo--Trost2022 G
DIP2B     AU015903chr12:
51153741-51153741
GAintergenicDe novo--Yuen2017 G
DIP2B     MT_82.3chr12:
51053760-51053760
AGintronicDe novo--Trost2022 G
DIP2B     Li2017:20647chr12:
51092112-51092112
CTexonicUnknownnonsynonymous SNVNM_173602c.C2050Tp.P684S26.98.258E-6Li2017 T
DIP2B     2-1112-003chr12:
51002723-51002723
GAintronicDe novo--Yuen2017 G
DIP2B     2-1409-003chr12:
51018895-51018895
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
DIP2B     MSSNG00235-003chr12:
51111367-51111367
GAintronicDe novo--Trost2022 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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