Variant Results

or

Results for "DSCAML1"

Variant Events: 34

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

DSCAML1

1-0346-004

chr11:
117312915-117312915

A

ATATG

intronic

De novo

-

Yuen2017 G

DSCAML1

SP0095136

chr11:
117303222-117303222

T

G

splicing

De novo

splicing

22.2

-

Fu2022 E

DSCAML1

12759.p1

chr11:
117374523-117374523

T

C

intronic

De novo

-

Satterstrom2020 E

DSCAML1

SP0124011

chr11:
117314511-117314511

G

A

intronic

De novo

-

Fu2022 E

DSCAML1

1-0508-003

chr11:
117574921-117574940

GATAATAATAATAATAATAA

GATAATAATAATAATAA

intronic

De novo

-

Yuen2017 G

DSCAML1

SP0051990

chr11:
117352790-117352790

C

T

exonic

De novo

nonsynonymous SNV

NM_020693

c.G2627A

p.R876Q

15.74

-

Fu2022 E

DSCAML1

SSC12226

chr11:
117309629-117309629

T

C

exonic

De novo

synonymous SNV

NM_020693

c.A4395G

p.P1465P

-

Fu2022 E
Lim2017 E

DSCAML1

SSC08351

chr11:
117301436-117301436

A

G

splicing

De novo

splicing

24.1

-

Antaki2022 GE
Fu2022 E
Lim2017 E

DSCAML1

2-1466-003

chr11:
117298256-117298256

G

A

downstream

De novo

-

Yuen2016 G
Yuen2017 G

DSCAML1

1-0402-003

chr11:
117495781-117495781

G

A

intronic

De novo

-

Yuen2017 G

DSCAML1

2-1357-003

chr11:
117607052-117607052

A

G

intronic

De novo

-

Yuen2017 G

DSCAML1

SP0041858

chr11:
117307831-117307831

G

A

intronic

De novo

-

5.106E-5

Fu2022 E

DSCAML1

AU1635302

chr11:
117411137-117411137

T

C

intronic

De novo

-

Yuen2017 G

DSCAML1

AU4079302

chr11:
117328776-117328776

T

C

intronic

De novo

-

Yuen2017 G

DSCAML1

1281012

chr11:
117302250-117302250

C

A

exonic

De novo

nonsynonymous SNV

NM_020693

c.G5554T

p.D1852Y

26.6

-

Fu2022 E

DSCAML1

GEA494

chr11:
117310077-117310077

A

G

exonic

De novo

nonsynonymous SNV

NM_020693

c.T4229C

p.L1410P

14.27

-

Fu2022 E

DSCAML1

AU4176302

chr11:
117673126-117673126

C

T

intergenic

De novo

-

Yuen2017 G

DSCAML1

388-05-103530

chr11:
117332319-117332319

G

C

intronic

De novo

-

Fu2022 E
Satterstrom2020 E

DSCAML1

TRE_382

chr11:
117299429-117299429

C

T

exonic

De novo

nonsynonymous SNV

NM_020693

c.G5957A

p.R1986H

18.04

1.927E-5

Fu2022 E

DSCAML1

TAS_F0273Y

chr11:
117342590-117342590

C

T

exonic

De novo

nonsynonymous SNV

NM_020693

c.G3127A

p.E1043K

24.1

-

Fu2022 E
Satterstrom2020 E

DSCAML1

1-0201-004

chr11:
117343756-117343756

C

T

intronic

De novo

-

Yuen2017 G

DSCAML1

2-0142-004

chr11:
117357000-117357000

T

G

intronic

De novo

-

Yuen2017 G

DSCAML1

1-0564-003

chr11:
117378906-117378906

C

T

intronic

De novo

-

Yuen2017 G

DSCAML1

2-1230-003

chr11:
117451867-117451867

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DSCAML1

AU069603

chr11:
117335503-117335503

C

A

intronic

De novo

-

Yuen2017 G

DSCAML1

AU3885304

chr11:
117687730-117687730

C

G

intergenic

De novo

-

Yuen2017 G

DSCAML1

1792-23269

chr11:
117308080-117308080

G

C

exonic

Inherited

nonsynonymous SNV

NM_020693

c.C4658G

p.S1553C

23.4

-

Callaghan2019 G

DSCAML1

1-0253-005

chr11:
117352843-117352843

G

T

exonic

De novo

synonymous SNV

NM_020693

c.C2574A

p.T858T

-

Yuen2017 G

DSCAML1

2-1407-003

chr11:
117320444-117320444

G

C

intronic

De novo

-

Yuen2016 G
Yuen2017 G

DSCAML1

A3

chr11:
117540524-117540524

C

T

intronic

De novo

-

Wu2018 G

DSCAML1

12137.p1

chr11:
117395497-117395497

C

A

intronic

Mosaic

-

0.2701

Dou2017 E

DSCAML1

13582.p1

chr11:
117301436-117301436

A

G

splicing

De novo

splicing

24.1

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

DSCAML1

3-0134-000

chr11:
117341026-117341027

TC

T

intronic

De novo

-

Yuen2017 G

DSCAML1

14687.p1

chr11:
117309629-117309629

T

C

exonic

De novo

synonymous SNV

NM_020693

c.A4395G

p.P1465P

-

Iossifov2014 E
Kosmicki2017 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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