Variant Results

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Results for "DGCR2"

Variant Events: 17

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

DGCR2

MSSNG00018-004

chr22:
19072263-19072263

C

A

intronic

De novo

-

-

Trost2022 G

DGCR2

2-0704-003

chr22:
19084748-19084762

CTATATATATATATA

CTATATATATATA

intronic

De novo

-

-

Yuen2017 G

DGCR2

1-0565-003

chr22:
19050284-19050284

G

TCT

intronic

De novo

-

-

Trost2022 G

DGCR2

1-0565-003

chr22:
19050279-19050280

CA

TG

intronic

De novo

-

-

Trost2022 G

DGCR2

MT_26.3

chr22:
19050133-19050133

G

C

intronic

De novo

-

-

Trost2022 G

DGCR2

MSSNG00008-004

chr22:
19048303-19048304

CG

C

intronic

De novo

-

Trost2022 G

DGCR2

SJD_74.3

chr22:
19035893-19035893

C

T

intronic

De novo

-

-

Trost2022 G

DGCR2

MT_6.3

chr22:
19031397-19031397

G

A

intronic

De novo

-

-

Trost2022 G

DGCR2

1-1103-003

chr22:
19025172-19025172

G

C

UTR3

De novo

-

-

Trost2022 G

DGCR2

4-0091-003

chr22:
19097195-19097195

A

G

intronic

De novo

-

-

Trost2022 G

DGCR2

5-0001-003

chr22:
19088851-19088855

GATAA

G

intronic

De novo

-

-

Trost2022 G

DGCR2

2-1647-003

chr22:
19086141-19086141

C

A

intronic

De novo

-

-

Trost2022 G

DGCR2

SP0056567

chr22:
19109751-19109751

G

GCGTGACCCC

UTR5

De novo

-

Fu2022 E

DGCR2

2-0198-004

chr22:
19050278-19050278

A

ATG

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

DGCR2

CC975.202

chr22:
19028713-19028713

G

A

exonic

De novo

synonymous SNV

NM_001173533
NM_001173534
NM_001184781
NM_005137

c.C1131T
c.C1122T
c.C1245T
c.C1254T

p.D377D
p.D374D
p.D415D
p.D418D

-

Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

DGCR2

2-1380-003

chr22:
19091013-19091013

G

A

intronic

De novo

-

-

Yuen2016 G

DGCR2

CC975_202

chr22:
19028713-19028713

G

A

exonic

De novo

synonymous SNV

NM_001173533
NM_001173534
NM_001184781
NM_005137

c.C1131T
c.C1122T
c.C1245T
c.C1254T

p.D377D
p.D374D
p.D415D
p.D418D

-

Fu2022 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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