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Results for "PTBP2"

Variant Events: 15

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
PTBP2     2-1567-003chr1:
97217557-97217557
CTintronicDe novo--Yuen2017 G
PTBP2     1-0969-003chr1:
97339730-97339730
AGintergenicDe novo--Yuen2017 G
PTBP2     10C112515chr1:
97189108-97189108
TTTAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
PTBP2     1-0252-003chr1:
97257392-97257392
TTTTTTTTGintronicDe novo--Yuen2017 G
PTBP2     5-0095-003chr1:
97197665-97197665
ACintronicDe novo--Yuen2017 G
PTBP2     7-0192-003chr1:
97359142-97359142
TCintergenicDe novo--Yuen2017 G
PTBP2     5-0095-003chr1:
97288601-97288601
CTintergenicDe novo--Yuen2017 G
PTBP2     NDAR_INVXU466BJV_wes1chr1:
97272493-97272493
GAexonicDe novononsynonymous SNVNM_001300990
NM_001300985
NM_001300986
NM_001300988
NM_001300989
NM_021190
NM_001300987
c.G994A
c.G1165A
c.G1174A
c.G1165A
c.G1150A
c.G1150A
c.G1198A
p.D332N
p.D389N
p.D392N
p.D389N
p.D384N
p.D384N
p.D400N
19.84-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PTBP2     7-0167-003chr1:
97531946-97531946
GAintergenicDe novo--Yuen2017 G
PTBP2     AU4379301chr1:
97294715-97294715
GCintergenicDe novo--Yuen2017 G
PTBP2     1-0320-004chr1:
97386706-97386706
TCintergenicDe novo--Yuen2017 G
PTBP2     2-1094-004chr1:
97447151-97447151
ACintergenicDe novo--Yuen2017 G
PTBP2     AU076808chr1:
97322374-97322382
GTCTCCCATGTintergenicDe novo--Yuen2017 G
PTBP2     2-1089-003chr1:
97527737-97527737
TTTGintergenicDe novo--Yuen2017 G
PTBP2     14621.p1chr1:
97189108-97189108
TTTAintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Source Variant Information

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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 notesView
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