Variant Results

or

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

A23

chr6:
56402268-56402268

C

T

intronic

De novo

-

Wu2018 G

DST

1-0009-004

chr6:
56423989-56423989

G

A

intronic

De novo

-

Yuen2017 G

DST

PN400372

chr6:
56380391-56380391

G

A

exonic

Unknown

nonsynonymous SNV

NM_015548
NM_183380
NM_001144770
NM_001144769

c.C10564T
c.C11542T
c.C11662T
c.C12076T

p.R3522W
p.R3848W
p.R3888W
p.R4026W

16.12

9.0E-4

Leblond2019 E

DST

529-04-101932

chr6:
56380250-56380250

G

A

exonic

De novo

nonsynonymous SNV

NM_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

1-0180-004

chr6:
56765400-56765400

C

T

exonic

De novo

nonsynonymous SNV

NM_001144769

c.G236A

p.R79Q

17.5

8.466E-6

Yuen2017 G

DST

2-1461-003

chr6:
56388329-56388329

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DST

1-0896-003

chr6:
56578277-56578277

A

G

intronic

De novo

-

Yuen2017 G

DST

1-0289-003

chr6:
56470757-56470757

G

A

intronic

De novo

5.884

8.33E-6

Yuen2017 G

DST

1-0435-003

chr6:
56751395-56751395

G

A

intronic

De novo

-

Yuen2017 G

DST

1-0454-003

chr6:
56553604-56553604

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DST

Kenny2014:5

chr6:
56482783-56482783

C

CCT

splicing

Unknown

splicing

-

5.0E-4

Kenny2014 T

DST

013-05-102548

chr6:
56397168-56397168

C

T

exonic

De novo

synonymous SNV

NM_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

Kenny2014:4

chr6:
56479284-56479284

T

C

splicing

Unknown

splicing

19.24

-

Kenny2014 T

DST

AU3645301

chr6:
56783268-56783273

TAACTA

T

intronic

De novo

-

Yuen2017 G

DST

PN400474

chr6:
56380391-56380391

G

A

exonic

Unknown

nonsynonymous SNV

NM_015548
NM_183380
NM_001144770
NM_001144769

c.C10564T
c.C11542T
c.C11662T
c.C12076T

p.R3522W
p.R3848W
p.R3888W
p.R4026W

16.12

9.0E-4

Leblond2019 E

DST

5-0106-003

chr6:
56367404-56367404

C

G

intronic

De novo

-

Yuen2017 G

DST

A26

chr6:
56790010-56790010

A

G

intronic

De novo

-

Wu2018 G

DST

287-04-101062

chr6:
56485049-56485049

T

C

exonic

De novo

synonymous SNV

NM_001723

c.A3783G

p.L1261L

-

Satterstrom2020 E

DST

2-1337-003

chr6:
56625195-56625195

A

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DST

SSC00370

chr6:
56366405-56366405

T

A

exonic

De novo

nonsynonymous SNV

NM_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

1-0059-003

chr6:
56461223-56461223

T

C

intronic

De novo

-

Yuen2017 G

DST

2-0210-004

chr6:
56428858-56428861

CTCT

C

intronic

De novo

-

Yuen2017 G

DST

iHART2748

chr6:
56394530-56394530

G

A

exonic

Maternal

stopgain

NM_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

PN400256

chr6:
56380391-56380391

G

A

exonic

Unknown

nonsynonymous SNV

NM_015548
NM_183380
NM_001144770
NM_001144769

c.C10564T
c.C11542T
c.C11662T
c.C12076T

p.R3522W
p.R3848W
p.R3888W
p.R4026W

16.12

9.0E-4

Leblond2019 E

DST

11673

chr6:
56376091-56376091

C

G

exonic

De novo

nonsynonymous SNV

NM_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

2-1581-003

chr6:
56361668-56361668

T

C

intronic

De novo

-

Yuen2017 G

DST

5-0103-003

chr6:
56746173-56746173

A

G

intronic

De novo

-

Yuen2017 G

DST

iHART1995

chr6:
56507564-56507565

TA

T

exonic

Paternal

frameshift deletion

NM_001723
NM_015548

c.22delT
c.22delT

p.Y8fs
p.Y8fs

-

2.0E-4

Ruzzo2019 G

DST

iHART1998

chr6:
56507564-56507565

TA

T

exonic

Paternal

frameshift deletion

NM_001723
NM_015548

c.22delT
c.22delT

p.Y8fs
p.Y8fs

-

2.0E-4

Ruzzo2019 G

DST

ASC_CA_65_A

chr6:
56484641-56484641

C

T

exonic

De novo

synonymous SNV

NM_001723

c.G4191A

p.T1397T

-

5.766E-5

Satterstrom2020 E

DST

13612.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_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.p1

chr6:
56366405-56366405

T

A

exonic

De novo

nonsynonymous SNV

NM_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

, -

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 notes	View
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