Variant Results

or

Results for "DGCR8"

Variant Events: 11

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

DGCR8

111304

chr22:
20077261-20077261

C

T

exonic

nonsynonymous SNV

NM_001190326
NM_022720

c.C950T
c.C950T

p.P317L
p.P317L

33.0

2.471E-5

Woodbury-Smith2022 E

DGCR8

12373.p1

chr22:
20074137-20074137

C

T

exonic

De novo

synonymous SNV

NM_001190326
NM_022720

c.C651T
c.C651T

p.G217G
p.G217G

-

8.261E-6

Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DGCR8

SP0050118

chr22:
20089420-20089420

C

T

intronic

De novo

-

Trost2022 G

DGCR8

SJD_65.3

chr22:
20070651-20070651

C

G

intronic

De novo

-

Trost2022 G

DGCR8

SP0094455

chr22:
20080417-20080417

G

A

exonic

De novo

synonymous SNV

NM_022720

c.G1692A

p.A564A

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DGCR8

SP0070692

chr22:
20073519-20073519

G

T

exonic

De novo

synonymous SNV

NM_001190326
NM_022720

c.G33T
c.G33T

p.P11P
p.P11P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

DGCR8

2-0295-003

chr22:
20097902-20097902

A

T

UTR3

De novo

-

Trost2022 G
Yuen2017 G

DGCR8

AU009904

chr22:
20074158-20074159

CG

C

exonic

De novo

frameshift deletion

NM_001190326
NM_022720

c.673delG
c.673delG

p.V225fs
p.V225fs

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

DGCR8

DEASD_0187_001

chr22:
20097643-20097643

C

T

UTR3

De novo

-

0.002

Kosmicki2017 E

DGCR8

6246

chr22:
20074137-20074137

C

T

exonic

De novo

synonymous SNV

NM_001190326
NM_022720

c.C651T
c.C651T

p.G217G
p.G217G

-

8.261E-6

Fu2022 E

DGCR8

mAGRE6043

chr22:
20097570-20097570

A

G

exonic

De novo

nonsynonymous SNV

NM_001190326
NM_022720

c.A2162G
c.A2261G

p.K721R
p.K754R

34.0

-

Cirnigliaro2023 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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