Variant Results

or

Results for "PGBD2"

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

PGBD2

mAGRE4809

chr1:
249211879-249211881

AAG

A

exonic

Paternal

frameshift deletion

NM_001017434
NM_170725

c.344_345del
c.1097_1098del

p.K115fs
p.K366fs

-

4.124E-5

Cirnigliaro2023 G

PGBD2

3-0661-000

chr1:
249224069-249224069

C

G

intergenic

De novo

-

Yuen2017 G

PGBD2

AU2296301

chr1:
249207026-249207026

G

T

intronic

De novo

-

Trost2022 G

PGBD2

AU13203

chr1:
249211378-249211378

A

T

exonic

De novo

nonsynonymous SNV

NM_170725

c.A595T

p.M199L

12.84

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PGBD2

SP0117308

chr1:
249212402-249212402

G

A

exonic

De novo

nonsynonymous SNV

NM_001017434
NM_170725

c.G866A
c.G1619A

p.R289Q
p.R540Q

7.91

3.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

PGBD2

AU3964302

chr1:
249205989-249205989

C

T

intronic

De novo

-

Yuen2017 G

PGBD2

2-1709-003

chr1:
249239711-249239713

CAT

C

intergenic

De novo

-

Yuen2017 G

PGBD2

MSSNG00022-003

chr1:
249214147-249214147

C

A

downstream

De novo

-

Trost2022 G

PGBD2

REACH000520

chr1:
249209081-249209081

C

T

intronic

De novo

-

Trost2022 G

PGBD2

AU4079301

chr1:
249218795-249218798

GTTT

GTTTT

intergenic

De novo

-

Yuen2017 G

PGBD2

AU2292301

chr1:
249239711-249239713

CAT

C

intergenic

De novo

-

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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