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Results for "ITSN2"

Variant Events: 25

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
ITSN2     1-0181-004chr2:
24451588-24451588
GAintronicDe novo--Yuen2017 G
ITSN2     iHART1867chr2:
24443936-24443936
CTsplicingMaternalsplicing20.4-Ruzzo2019 G
ITSN2     AU3918302chr2:
24749959-24749959
AGintergenicDe novo--Yuen2017 G
ITSN2     11766.p1chr2:
24518595-24518595
CTexonicDe novononsynonymous SNVNM_006277
NM_019595
NM_147152
c.G1573A
c.G1573A
c.G1573A
p.V525I
p.V525I
p.V525I
11.83-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
ITSN2     SSC03134chr2:
24518595-24518595
CTexonicDe novononsynonymous SNVNM_006277
NM_019595
NM_147152
c.G1573A
c.G1573A
c.G1573A
p.V525I
p.V525I
p.V525I
11.83-Lim2017 E
ITSN2     2-1261-003chr2:
24687289-24687289
TCintergenicDe novo--Yuen2017 G
ITSN2     1-0022-004chr2:
24501275-24501275
ACintronicDe novo--Yuen2017 G
ITSN2     AU3725302chr2:
24485927-24485927
CAintronicDe novo--Yuen2017 G
ITSN2     2-1350-003chr2:
24687289-24687289
TCintergenicDe novo--Yuen2017 G
ITSN2     1-0022-003chr2:
24501275-24501275
ACintronicDe novo--Yuen2016 G
ITSN2     1-0433-004chr2:
24556291-24556291
GAintronicDe novo--Yuen2017 G
ITSN2     1-0054-004chr2:
24729032-24729032
CTintergenicDe novo--Yuen2017 G
ITSN2     2-0110-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
ITSN2     1-0973-003chr2:
24631061-24631061
CTintergenicDe novo--Yuen2017 G
ITSN2     08C78163chr2:
24522848-24522848
CTexonicDe novononsynonymous SNVNM_006277
NM_019595
NM_147152
c.G1274A
c.G1274A
c.G1274A
p.R425H
p.R425H
p.R425H
18.383.296E-5Satterstrom2020 E
ITSN2     1-0265-004chr2:
24726965-24726965
CCTATTTATTGTACTTGTintergenicDe novo--Yuen2017 G
ITSN2     1-0324-003chr2:
24497246-24497246
CAintronicDe novo--Yuen2017 G
ITSN2     5-0055-003chr2:
24497126-24497126
GAintronicDe novo--Yuen2017 G
ITSN2     AU4365302chr2:
24545840-24545840
TAintronicDe novo--Yuen2017 G
ITSN2     1-0265-003chr2:
24726965-24726965
CCTATTTATTGTACTTGTintergenicDe novo--Yuen2017 G
ITSN2     Cukier2014:7435chr2:
24435599-24435599
GAexonicUnknownnonsynonymous SNVNM_019595
NM_006277
c.C3928T
c.C4009T
p.R1310W
p.R1337W
16.520.0288Cukier2014 E
ITSN2     AU3918301chr2:
24631494-24631494
CGintergenicDe novo--Yuen2017 G
ITSN2     AU3918301chr2:
24635780-24635780
CTintergenicDe novo--Yuen2017 G
ITSN2     2-0022-003chr2:
24553259-24553259
GAintronicDe novo--Yuen2017 G
ITSN2     AU3702306chr2:
24754979-24754979
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Paper alias:

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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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