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Results for "DST"

Variant Events: 32

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
DST     A23chr6:
56402268-56402268
CTintronicDe novo--Wu2018 G
DST     1-0009-004chr6:
56423989-56423989
GAintronicDe novo--Yuen2017 G
DST     PN400372chr6:
56380391-56380391
GAexonicUnknownnonsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.C10564T
c.C11542T
c.C11662T
c.C12076T
p.R3522W
p.R3848W
p.R3888W
p.R4026W
16.129.0E-4Leblond2019 E
DST     529-04-101932chr6:
56380250-56380250
GAexonicDe novononsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.C10705T
c.C11683T
c.C11803T
c.C12217T
p.R3569W
p.R3895W
p.R3935W
p.R4073W
17.23-Satterstrom2020 E
DST     1-0180-004chr6:
56765400-56765400
CTexonicDe novononsynonymous SNVNM_001144769c.G236Ap.R79Q17.58.466E-6Yuen2017 G
DST     2-1461-003chr6:
56388329-56388329
AGintronicDe novo--Yuen2016 G
Yuen2017 G
DST     1-0896-003chr6:
56578277-56578277
AGintronicDe novo--Yuen2017 G
DST     1-0289-003chr6:
56470757-56470757
GAintronicDe novo5.8848.33E-6Yuen2017 G
DST     1-0435-003chr6:
56751395-56751395
GAintronicDe novo--Yuen2017 G
DST     1-0454-003chr6:
56553604-56553604
GAintronicDe novo--Yuen2016 G
Yuen2017 G
DST     Kenny2014:5chr6:
56482783-56482783
CCCTsplicingUnknownsplicing-5.0E-4Kenny2014 T
DST     013-05-102548chr6:
56397168-56397168
CTexonicDe novosynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.G9213A
c.G10191A
c.G10311A
c.G10725A
p.E3071E
p.E3397E
p.E3437E
p.E3575E
--Satterstrom2020 E
DST     Kenny2014:4chr6:
56479284-56479284
TCsplicingUnknownsplicing19.24-Kenny2014 T
DST     AU3645301chr6:
56783268-56783273
TAACTATintronicDe novo--Yuen2017 G
DST     PN400474chr6:
56380391-56380391
GAexonicUnknownnonsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.C10564T
c.C11542T
c.C11662T
c.C12076T
p.R3522W
p.R3848W
p.R3888W
p.R4026W
16.129.0E-4Leblond2019 E
DST     5-0106-003chr6:
56367404-56367404
CGintronicDe novo--Yuen2017 G
DST     A26chr6:
56790010-56790010
AGintronicDe novo--Wu2018 G
DST     287-04-101062chr6:
56485049-56485049
TCexonicDe novosynonymous SNVNM_001723c.A3783Gp.L1261L--Satterstrom2020 E
DST     2-1337-003chr6:
56625195-56625195
ACintronicDe novo--Yuen2016 G
Yuen2017 G
DST     SSC00370chr6:
56366405-56366405
TAexonicDe novononsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.A11784T
c.A12762T
c.A12882T
c.A13296T
p.E3928D
p.E4254D
p.E4294D
p.E4432D
15.96-Lim2017 E
DST     1-0059-003chr6:
56461223-56461223
TCintronicDe novo--Yuen2017 G
DST     2-0210-004chr6:
56428858-56428861
CTCTCintronicDe novo--Yuen2017 G
DST     iHART2748chr6:
56394530-56394530
GAexonicMaternalstopgainNM_015548
NM_183380
NM_001144770
NM_001144769
c.C9442T
c.C10420T
c.C10540T
c.C10954T
p.Q3148X
p.Q3474X
p.Q3514X
p.Q3652X
56.0-Ruzzo2019 G
DST     PN400256chr6:
56380391-56380391
GAexonicUnknownnonsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.C10564T
c.C11542T
c.C11662T
c.C12076T
p.R3522W
p.R3848W
p.R3888W
p.R4026W
16.129.0E-4Leblond2019 E
DST     11673chr6:
56376091-56376091
CGexonicDe novononsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.G10815C
c.G11793C
c.G11913C
c.G12327C
p.E3605D
p.E3931D
p.E3971D
p.E4109D
18.5-Satterstrom2020 E
DST     2-1581-003chr6:
56361668-56361668
TCintronicDe novo--Yuen2017 G
DST     5-0103-003chr6:
56746173-56746173
AGintronicDe novo--Yuen2017 G
DST     iHART1995chr6:
56507564-56507565
TATexonicPaternalframeshift deletionNM_001723
NM_015548
c.22delT
c.22delT
p.Y8fs
p.Y8fs
-2.0E-4Ruzzo2019 G
DST     iHART1998chr6:
56507564-56507565
TATexonicPaternalframeshift deletionNM_001723
NM_015548
c.22delT
c.22delT
p.Y8fs
p.Y8fs
-2.0E-4Ruzzo2019 G
DST     ASC_CA_65_Achr6:
56484641-56484641
CTexonicDe novosynonymous SNVNM_001723c.G4191Ap.T1397T-5.766E-5Satterstrom2020 E
DST     13612.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_015548
NM_183380
NM_001144770
NM_001144769
NM_015548
NM_183380
NM_001144770
NM_001144769
c.9803_9806del
c.10781_10784del
c.10901_10904del
c.11315_11318del
c.9802_9805del
c.10780_10783del
c.10900_10903del
c.11314_11317del
p.Q3268fs
p.Q3594fs
p.Q3634fs
p.Q3772fs
p.Q3268fs
p.Q3594fs
p.Q3634fs
p.Q3772fs
--Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
DST     11403.p1chr6:
56366405-56366405
TAexonicDe novononsynonymous SNVNM_015548
NM_183380
NM_001144770
NM_001144769
c.A11784T
c.A12762T
c.A12882T
c.A13296T
p.E3928D
p.E4254D
p.E4294D
p.E4432D
15.96-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
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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