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Results for "PTK2B"

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
PTK2B     10C110253chr8:
27308294-27308294
GAexonicDe novononsynonymous SNVNM_173175
NM_173176
NM_004103
NM_173174
c.G2243A
c.G2369A
c.G2369A
c.G2369A
p.R748Q
p.R790Q
p.R790Q
p.R790Q
17.628.259E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PTK2B     1-0153-005chr8:
27303913-27303913
AGintronicDe novo--Yuen2017 G
PTK2B     1-0406-003chr8:
27271128-27271128
GAintronicDe novo--Yuen2017 G
PTK2B     1-0560-003chr8:
27222409-27222409
AGintronicDe novo--Yuen2017 G
PTK2B     AU2495302chr8:
27291680-27291680
CTintronicDe novo--Yuen2017 G
PTK2B     AU3716302chr8:
27182489-27182490
TGTintronicDe novo--Yuen2017 G
PTK2B     AU061003chr8:
27190215-27190215
CTintronicDe novo--Yuen2017 G
PTK2B     AU4122301chr8:
27200260-27200260
CAintronicDe novo--Yuen2017 G
PTK2B     AU047904chr8:
27190605-27190605
GAintronicDe novo--Yuen2017 G
PTK2B     Shi2013:2chr8:
27291015-27291015
TCexonicInheritednonsynonymous SNVNM_173175
NM_173176
NM_004103
NM_173174
c.T1051C
c.T1051C
c.T1051C
c.T1051C
p.Y351H
p.Y351H
p.Y351H
p.Y351H
24.88.249E-6Shi2013 G
PTK2B     1-0336-003chr8:
27283970-27283970
GAintronicDe novo--Yuen2017 G
PTK2B     2-1086-003chr8:
27185073-27185073
CTintronicDe novo--Yuen2017 G
PTK2B     2-0202-004chr8:
27245100-27245100
GAintronicDe novo--Yuen2017 G
PTK2B     2-1438-003chr8:
27314971-27314971
AGintronicDe novo--Yuen2016 G
Yuen2017 G
PTK2B     Shi2013:1chr8:
27291015-27291015
TCexonicInheritednonsynonymous SNVNM_173175
NM_173176
NM_004103
NM_173174
c.T1051C
c.T1051C
c.T1051C
c.T1051C
p.Y351H
p.Y351H
p.Y351H
p.Y351H
24.88.249E-6Shi2013 G
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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