Variant Results

or

Results for "DPY19L2"

Variant Events: 14

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

DPY19L2

MSSNG00040-004

chr12:
64000340-64000340

G

A

intronic

De novo

-

Trost2022 G

DPY19L2

2-1438-003

chr12:
63988731-63988731

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

DPY19L2

6-0476-003

chr12:
64023057-64023061

GAGGA

G

intronic

De novo

-

Trost2022 G

DPY19L2

SP0038503

chr12:
64011836-64011836

C

T

intronic

De novo

-

Fu2022 E

DPY19L2

AU065304

chr12:
63994472-63994472

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPY19L2

AU4359301

chr12:
63978408-63978408

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

DPY19L2

MSSNG00116-003

chr12:
64025863-64025863

C

T

intronic

De novo

-

Trost2022 G

DPY19L2

DEASD_0427_001

chr12:
64062118-64062118

G

A

exonic

De novo

nonsynonymous SNV

NM_173812

c.C56T

p.S19F

1.33

8.752E-6

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

DPY19L2

2-1308-003

chr12:
64019622-64019622

T

C

intronic

De novo

-

Yuen2017 G

DPY19L2

AU3874301

chr12:
64031709-64031709

C

A

intronic

De novo

-

Yuen2017 G

DPY19L2

SP0026884

chr12:
63991705-63991705

A

G

intronic

De novo

-

Fu2022 E

DPY19L2

SP0049526

chr12:
64041067-64041067

C

T

exonic

De novo

nonsynonymous SNV

NM_173812

c.G667A

p.V223I

11.42

-

Fu2022 E
Zhou2022 GE

DPY19L2

AU053503

chr12:
63953503-63953503

T

G

UTR3

De novo

-

Trost2022 G
Yuen2017 G

DPY19L2

2-1105-003

chr12:
64008144-64008144

G

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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