Variant Results

or

Results for "DPYSL2"

Variant Events: 28

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

DPYSL2

2-0305-003

chr8:
26420180-26420180

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPYSL2

2-0197-004

chr8:
26480890-26480890

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPYSL2

F11014-1

chr8:
26501002-26501002

G

A

exonic

De novo

nonsynonymous SNV

NM_001197293
NM_001244604
NM_001386

c.G1174A
c.G751A
c.G859A

p.G392S
p.G251S
p.G287S

22.0

-

Fu2022 E

DPYSL2

7-0469-003

chr8:
26388687-26388687

A

T

intronic

De novo

-

Trost2022 G

DPYSL2

REACH000249

chr8:
26429396-26429396

C

T

intronic

De novo

-

Trost2022 G

DPYSL2

1-0142-005

chr8:
26455882-26455882

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPYSL2

5-0041-003

chr8:
26586273-26586273

G

C

intergenic

De novo

-

Yuen2017 G

DPYSL2

1-0960-003

chr8:
26477298-26477298

C

G

intronic

De novo

-

Trost2022 G

DPYSL2

MSSNG00042-004

chr8:
26514796-26514796

C

A

UTR3

De novo

-

Trost2022 G

DPYSL2

5-0072-003

chr8:
26461278-26461278

A

G

intronic

De novo

-

Trost2022 G

DPYSL2

3-0066-001

chr8:
26476679-26476683

AGCTC

A

intronic

De novo

-

Trost2022 G

DPYSL2

1-1238-003

chr8:
26431475-26431475

A

G

intronic

De novo

-

Trost2022 G

DPYSL2

MSSNG00024-004

chr8:
26436398-26436398

C

T

intronic

De novo

-

Trost2022 G

DPYSL2

SP0102139

chr8:
26484796-26484796

C

T

exonic

De novo

synonymous SNV

NM_001197293
NM_001244604
NM_001386

c.C921T
c.C498T
c.C606T

p.G307G
p.G166G
p.G202G

-

5.767E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

DPYSL2

1-0531-003

chr8:
26396760-26396760

A

G

intronic

De novo

-

Yuen2017 G

DPYSL2

2-1280-003

chr8:
26580674-26580674

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

DPYSL2

1-0119-004

chr8:
26557178-26557178

C

T

intergenic

De novo

-

Yuen2017 G

DPYSL2

MAC1188

chr8:
26492318-26492318

G

A

exonic

De novo

nonsynonymous SNV

NM_001197293
NM_001244604
NM_001386

c.G1028A
c.G605A
c.G713A

p.R343H
p.R202H
p.R238H

30.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DPYSL2

14370.p1

chr8:
26555956-26555956

G

T

intergenic

De novo

-

Turner2016 G

DPYSL2

2-0022-004

chr8:
26390538-26390538

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPYSL2

SSC10085

chr8:
26505273-26505273

A

T

exonic

nonsynonymous SNV

NM_001197293
NM_001244604
NM_001386

c.A1553T
c.A1130T
c.A1238T

p.D518V
p.D377V
p.D413V

26.6

8.267E-6

Antaki2022 GE

DPYSL2

2-1620-004

chr8:
26489674-26489674

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPYSL2

2-0309-004

chr8:
26445965-26445965

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPYSL2

11566.p1

chr8:
26510772-26510772

C

T

exonic

De novo

nonsynonymous SNV

NM_001197293
NM_001244604
NM_001386

c.C1801T
c.C1378T
c.C1486T

p.R601C
p.R460C
p.R496C

23.3

8.261E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

DPYSL2

AU4056302

chr8:
26455866-26455866

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPYSL2

SSC02581

chr8:
26510772-26510772

C

T

exonic

De novo

nonsynonymous SNV

NM_001197293
NM_001244604
NM_001386

c.C1801T
c.C1378T
c.C1486T

p.R601C
p.R460C
p.R496C

23.3

8.261E-6

Antaki2022 GE
Fu2022 E
Trost2022 G

DPYSL2

NDAR_INVCC187LU8_wes1

chr8:
26501494-26501494

C

A

exonic

De novo

nonsynonymous SNV

NM_001197293
NM_001244604
NM_001386

c.C1312A
c.C889A
c.C997A

p.H438N
p.H297N
p.H333N

20.4

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DPYSL2

1-0531-003

chr8:
26397362-26397362

C

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 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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