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Results for "DUS2"

Variant Events: 14

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
DUS2     2-0127-004chr16:
68115079-68115079
CTintergenicDe novo--Yuen2017 G
DUS2     JASD_Fam0231chr16:
68100248-68100248
GAexonicDe novononsynonymous SNVNM_001271763
NM_001271762
NM_017803
c.G341A
c.G446A
c.G446A
p.R114H
p.R149H
p.R149H
11.028.236E-6Takata2018 E
DUS2     iHART2691chr16:
68107994-68107994
CTexonicMaternalstopgainNM_001271763
NM_001271762
NM_017803
c.C763T
c.C868T
c.C868T
p.R255X
p.R290X
p.R290X
33.03.295E-5Ruzzo2019 G
DUS2     iHART2690chr16:
68107994-68107994
CTexonicMaternalstopgainNM_001271763
NM_001271762
NM_017803
c.C763T
c.C868T
c.C868T
p.R255X
p.R290X
p.R290X
33.03.295E-5Ruzzo2019 G
DUS2     REACH000533chr16:
68100673-68100673
TGintronicDe novo--Trost2022 G
DUS2     REACH000533chr16:
68100772-68100772
TAintronicDe novo--Trost2022 G
DUS2     DEASD_0323_001chr16:
68105005-68105005
CCTGTCTTCCGexonicDe novononframeshift insertionNM_001271763
NM_001271762
NM_017803
c.699_700insTGTCTTCCG
c.804_805insTGTCTTCCG
c.804_805insTGTCTTCCG
p.I233delinsICLP
p.I268delinsICLP
p.I268delinsICLP
--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
DUS2     3-0078-000chr16:
68082944-68082944
CGintronicDe novo--Trost2022 G
DUS2     1-0731-004chr16:
68083163-68083163
AGintronicDe novo--Trost2022 G
DUS2     mAGRE2691chr16:
68107994-68107994
CTexonicMaternalstopgainNM_001271763
NM_001271762
NM_017803
c.C763T
c.C868T
c.C868T
p.R255X
p.R290X
p.R290X
33.03.295E-5Cirnigliaro2023 G
DUS2     mAGRE2690chr16:
68107994-68107994
CTexonicMaternalstopgainNM_001271763
NM_001271762
NM_017803
c.C763T
c.C868T
c.C868T
p.R255X
p.R290X
p.R290X
33.03.295E-5Cirnigliaro2023 G
DUS2     1-0485-003chr16:
68108649-68108649
TCintronicDe novo--Trost2022 G
Yuen2017 G
DUS2     3-0782-000chr16:
68065269-68065269
TCintronicDe novo--Trost2022 G
DUS2     7-0251-003chr16:
68112701-68112701
CTexonicDe novononsynonymous SNVNM_001271763
NM_001271762
NM_017803
c.C1189T
c.C1294T
c.C1294T
p.R397W
p.R432W
p.R432W
19.672.542E-5Trost2022 G
Yuen2017 G
Zhou2022 GE
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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