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Results for "DIP2B"

Variant Events: 22

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     ASDFI_729chr12:
51069223-51069223
TAexonicDe novononsynonymous SNVNM_173602c.T908Ap.I303N19.29-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DIP2B     AU1355301chr12:
51085855-51085855
TAintronicDe novo--Yuen2017 G
DIP2B     A15chr12:
51089057-51089057
TGexonicDe novononsynonymous SNVNM_173602c.T1727Gp.M576R16.82-Wu2018 G
DIP2B     iHART1312chr12:
51118670-51118670
GAsplicingMaternalsplicing27.2-Ruzzo2019 G
DIP2B     1-0673-003chr12:
51008551-51008552
GTGTTintronicDe novo--Yuen2017 G
DIP2B     A27chr12:
51079635-51079635
TCexonicDe novononsynonymous SNVNM_173602c.T1337Cp.I446T20.88.258E-6Wu2018 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     AU026604chr12:
51107211-51107211
GCintronicDe novo--Yuen2017 G
DIP2B     AU031203chr12:
51000518-51000518
AGintronicDe novo--Yuen2017 G
DIP2B     DEASD_1095_001chr12:
51097940-51097940
TCexonicDe novosynonymous SNVNM_173602c.T2343Cp.S781S--Satterstrom2020 E
DIP2B     AU4032306chr12:
50993593-50993593
AGintronicDe novo--Yuen2017 G
DIP2B     2-1605-004chr12:
50958977-50958977
GAintronicDe novo--Yuen2017 G
DIP2B     1-0139-005chr12:
51081867-51081867
CAintronicDe novo--Yuen2017 G
DIP2B     1-0139-005chr12:
51039477-51039477
AGintronicDe novo--Yuen2017 G
DIP2B     AU4007302chr12:
51104948-51104948
TGintronicDe novo--Yuen2017 G
DIP2B     Li2017:23785chr12:
51034600-51034600
GAexonicUnknownnonsynonymous SNVNM_173602c.G266Ap.R89Q28.18.248E-6Li2017 T
DIP2B     336-06-106561chr12:
51065023-51065023
CTexonicDe novononsynonymous SNVNM_173602c.C482Tp.S161F17.36-Satterstrom2020 E
DIP2B     AU015903chr12:
51153741-51153741
GAintergenicDe novo--Yuen2017 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--Yuen2016 G
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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