or
or
Exact

Results for "NID2"

Variant Events: 28

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
NID2     1-0546-003chr14:
52681970-52681970
ACintergenicDe novo--Yuen2017 G
NID2     1-0546-003chr14:
52681258-52681258
CAintergenicDe novo--Yuen2017 G
NID2     555-06-107499chr14:
52481164-52481164
GAexonicDe novosynonymous SNVNM_007361c.C3261Tp.T1087T0.3743.0E-4Satterstrom2020 E
NID2     1-0373-003chr14:
52721718-52721718
GAintergenicDe novo--Yuen2017 G
NID2     1-0274-004chr14:
52643987-52643987
AGintergenicDe novo--Yuen2017 G
NID2     1-0546-003chr14:
52682354-52682354
GTintergenicDe novo--Yuen2017 G
NID2     2-1721-003chr14:
52702561-52702561
TCintergenicDe novo--Yuen2017 G
NID2     1-0604-003chr14:
52526141-52526141
GAintronicDe novo--Yuen2017 G
NID2     7-0254-003chr14:
52520100-52520100
CTintronicDe novo--Yuen2017 G
NID2     2-0144-004chr14:
52705455-52705455
CTintergenicDe novo--Yuen2017 G
NID2     AU3617302chr14:
52651692-52651692
GAintergenicDe novo--Yuen2017 G
NID2     AU2787301chr14:
52539934-52539934
AGintergenicDe novo--Yuen2017 G
NID2     NDAR_INVRT684RNC_wes1chr14:
52477726-52477726
CTexonicDe novononsynonymous SNVNM_007361c.G3590Ap.R1197H12.233.0E-4DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
NID2     A9chr14:
52715608-52715608
GAintergenicDe novo--Wu2018 G
NID2     AU2129301chr14:
52472449-52472453
TTTTATTTTATTTAsplicingDe novosplicing--Yuen2017 G
NID2     1-0338-005chr14:
52643966-52643966
TCintergenicDe novo--Yuen2017 G
NID2     5-0018-003chr14:
52567959-52567959
TCintergenicDe novo--Yuen2017 G
NID2     AU2100302chr14:
52660506-52660506
CTintergenicDe novo--Yuen2017 G
NID2     2-0122-003chr14:
52688224-52688224
AGintergenicDe novo--Yuen2017 G
NID2     AU3891304chr14:
52698236-52698236
AGintergenicDe novo--Yuen2017 G
NID2     iHART2949chr14:
52473253-52473253
AACCsplicingMaternalsplicing-1.649E-5Ruzzo2019 G
NID2     1-0208-003chr14:
52662935-52662935
GAintergenicDe novo--Yuen2017 G
NID2     iHART2948chr14:
52473253-52473253
AACCsplicingMaternalsplicing-1.649E-5Ruzzo2019 G
NID2     2-0273-003chr14:
52643959-52643959
AGintergenicDe novo--Yuen2017 G
NID2     AU005214chr14:
52503412-52503412
CTintronicDe novo--Yuen2017 G
NID2     AU071203chr14:
52690200-52690200
AGintergenicDe novo--Yuen2017 G
NID2     13236.p1chr14:
52505626-52505626
CTexonicDe novononsynonymous SNVNM_007361c.G2096Ap.R699H8.4741.648E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
NID2     2-1291-003chr14:
52628920-52628920
GTintergenicDe novo--Yuen2017 G
Source Variant Information

, -

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
More