Variant Results

or

Results for "OBSCN"

Variant Events: 40

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

OBSCN

AU2072302

chr1:
228525007-228525007

C

T

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.C16723T
c.C16723T
c.C19594T

p.R5575C
p.R5575C
p.R6532C

15.08

8.688E-5

Yuen2017 G

OBSCN

iHART1901

chr1:
228560587-228560587

G

T

exonic

Paternal

stopgain

NM_001098623
NM_001271223

c.G22108T
c.G24979T

p.E7370X
p.E8327X

65.0

5.69E-5

Ruzzo2019 G

OBSCN

iHART1454

chr1:
228540764-228540764

G

A

splicing

Paternal

splicing

13.43

-

Ruzzo2019 G

OBSCN

3A551

chr1:
228559450-228559450

G

C

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_001271223

c.G20971C
c.G23842C

p.G6991R
p.G7948R

11.56

-

Satterstrom2020 E

OBSCN

iHART2796

chr1:
228509081-228509081

C

T

exonic

Paternal

stopgain

NM_001098623
NM_052843
NM_001271223

c.C14539T
c.C14539T
c.C17410T

p.Q4847X
p.Q4847X
p.Q5804X

63.0

-

Ruzzo2019 G

OBSCN

3-0018-000

chr1:
228504573-228504573

C

G

exonic

De novo

synonymous SNV

NM_001098623
NM_052843
NM_001271223

c.C13449G
c.C13449G
c.C16320G

p.T4483T
p.T4483T
p.T5440T

-

Yuen2017 G

OBSCN

iHART3046

chr1:
228554779-228554795

AGGGAGCGAGACATCCT

A

exonic

Maternal

frameshift deletion

NM_001098623
NM_001271223

c.19532_19547del
c.22403_22418del

p.R6511fs
p.R7468fs

-

3.632E-5

Ruzzo2019 G

OBSCN

1-0413-003

chr1:
228563025-228563025

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

OBSCN

iHART3047

chr1:
228554779-228554795

AGGGAGCGAGACATCCT

A

exonic

Maternal

frameshift deletion

NM_001098623
NM_001271223

c.19532_19547del
c.22403_22418del

p.R6511fs
p.R7468fs

-

3.632E-5

Ruzzo2019 G

OBSCN

11888.p1

chr1:
228555669-228555687

ACTGCCCCAGCCATGCACC

A

intronic

De novo

-

Satterstrom2020 E

OBSCN

07C70673

chr1:
228525007-228525007

C

T

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.C16723T
c.C16723T
c.C19594T

p.R5575C
p.R5575C
p.R6532C

15.08

8.688E-5

Satterstrom2020 E

OBSCN

1-0497-003

chr1:
228411813-228411813

G

A

intronic

De novo

-

Yuen2017 G

OBSCN

2-1391-003

chr1:
228491517-228491517

A

G

exonic

De novo

nonsynonymous SNV

NM_001271223

c.A13880G

p.Y4627C

9.266

-

Yuen2017 G

OBSCN

AU4286302

chr1:
228461421-228461421

G

A

intronic

De novo

-

1.816E-5

Yuen2017 G

OBSCN

DEASD_0066_001

chr1:
228553743-228553743

T

G

intronic

De novo

-

5.0E-4

Satterstrom2020 E

OBSCN

2-1299-003

chr1:
228557824-228557824

C

T

intronic

De novo

-

2.54E-5

Yuen2017 G

OBSCN

AU3761302

chr1:
228534143-228534143

C

A

intronic

De novo

-

Yuen2017 G

OBSCN

EGAN00001101028

chr1:
228553743-228553743

T

G

intronic

De novo

-

5.0E-4

Satterstrom2020 E

OBSCN

179-08-109807

chr1:
228558817-228558817

C

T

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_001271223

c.C20338T
c.C23209T

p.R6780W
p.R7737W

15.48

1.0E-4

Satterstrom2020 E

OBSCN

13757.p1

chr1:
228505699-228505699

T

G

exonic

De novo

synonymous SNV

NM_001098623
NM_052843
NM_001271223

c.T13956G
c.T13956G
c.T16827G

p.G4652G
p.G4652G
p.G5609G

-

3.0E-4

Satterstrom2020 E

OBSCN

7-0100-004

chr1:
228523967-228523967

G

A

exonic

De novo

synonymous SNV

NM_001098623
NM_052843
NM_001271223

c.G16533A
c.G16533A
c.G19404A

p.R5511R
p.R5511R
p.R6468R

8.45

-

Yuen2017 G

OBSCN

11226.p1

chr1:
228434310-228434310

G

A

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.G3839A
c.G3839A
c.G4115A

p.C1280Y
p.C1280Y
p.C1372Y

14.12

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

OBSCN

13705.p1

chr1:
228509724-228509724

G

A

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.G15182A
c.G15182A
c.G18053A

p.R5061H
p.R5061H
p.R6018H

11.32

2.013E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

OBSCN

14168.p1

chr1:
228538569-228538569

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.G18344A
c.G18344A
c.G21215A

p.R6115Q
p.R6115Q
p.R7072Q

23.1

2.512E-5

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E

OBSCN

AU2129301

chr1:
228443154-228443154

A

G

intronic

De novo

-

Yuen2017 G

OBSCN

11397.p1

chr1:
228548375-228548375

C

T

exonic

De novo

synonymous SNV

NM_052843

c.C19782T

p.T6594T

-

9.37E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

OBSCN

P1190

chr1:
228476583-228476583

G

C

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.G10333C
c.G10333C
c.G11620C

p.V3445L
p.V3445L
p.V3874L

12.85

-

Hashimoto2016 E

OBSCN

12225.p1

chr1:
228401952-228401952

G

GC

exonic

De novo

frameshift insertion

NM_001098623
NM_001271223
NM_052843

c.1336_1337insC
c.1336_1337insC
c.1336_1337insC

p.V446fs
p.V446fs
p.V446fs

-

Satterstrom2020 E

OBSCN

Chen2017:97

chr1:
228447223-228447223

A

G

exonic

De novo

nonsynonymous SNV

NM_001271223

c.A4883G

p.K1628R

14.64

-

Chen2017 E

OBSCN

iHART2188

chr1:
228486166-228486166

C

T

exonic

Paternal

stopgain

NM_001271223

c.C12958T

p.R4320X

62.0

5.261E-5

Ruzzo2019 G

OBSCN

iHART3290

chr1:
228476026-228476026

G

A

splicing

Paternal

splicing

13.41

3.402E-5

Ruzzo2019 G

OBSCN

iHART2795

chr1:
228509081-228509081

C

T

exonic

Paternal

stopgain

NM_001098623
NM_052843
NM_001271223

c.C14539T
c.C14539T
c.C17410T

p.Q4847X
p.Q4847X
p.Q5804X

63.0

-

Ruzzo2019 G

OBSCN

12929.p1

chr1:
228553400-228553400

C

T

intronic

De novo

-

Wilfert2021 G

OBSCN

iHART2186

chr1:
228486166-228486166

C

T

exonic

Paternal

stopgain

NM_001271223

c.C12958T

p.R4320X

62.0

5.261E-5

Ruzzo2019 G

OBSCN

SSC02395

chr1:
228434310-228434310

G

A

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.G3839A
c.G3839A
c.G4115A

p.C1280Y
p.C1280Y
p.C1372Y

14.12

-

Lim2017 E

OBSCN

10C104458

chr1:
228434296-228434296

T

G

exonic

De novo

nonsynonymous SNV

NM_001098623
NM_052843
NM_001271223

c.T3825G
c.T3825G
c.T4101G

p.S1275R
p.S1275R
p.S1367R

6.106

4.213E-5

Lim2017 E

OBSCN

ASC_CA_129_A

chr1:
228553893-228553893

C

T

intronic

De novo

-

8.421E-6

Satterstrom2020 E

OBSCN

AU050910

chr1:
228579473-228579473

G

A

intergenic

De novo

-

Yuen2017 G

OBSCN

iHART3291

chr1:
228476026-228476026

G

A

splicing

Paternal

splicing

13.41

3.402E-5

Ruzzo2019 G

OBSCN

iHART1490

chr1:
228465550-228465550

C

T

exonic

Maternal

stopgain

NM_001098623
NM_052843
NM_001271223

c.C6850T
c.C6850T
c.C8137T

p.R2284X
p.R2284X
p.R2713X

47.0

7.585E-5

Ruzzo2019 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 notes	View
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