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Results for "PTK7"

Variant Events: 20

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
PTK7     14496.p1chr6:
43110675-43110675
CTintronicDe novo--Turner2016 G
PTK7     2-1346-003chr6:
43097640-43097640
TCintronicDe novo--Yuen2016 G
Yuen2017 G
PTK7     1-0508-003chr6:
43125462-43125476
AATATATATATATATAATATATATATATintronicDe novo--Yuen2017 G
PTK7     AU031003chr6:
43074841-43074841
AGintronicDe novo--Yuen2017 G
PTK7     AU1576302chr6:
43099815-43099815
CTexonicUnknownnonsynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882
c.C898T
c.C874T
c.C874T
c.C874T
c.C874T
p.R300W
p.R292W
p.R292W
p.R292W
p.R292W
25.14.136E-5Stessman2017 T
PTK7     214-17045-1chr6:
43098059-43098059
CTexonicUnknownnonsynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882
c.C586T
c.C562T
c.C562T
c.C562T
c.C562T
p.R196W
p.R188W
p.R188W
p.R188W
p.R188W
18.031.659E-5Stessman2017 T
PTK7     AU1685301chr6:
43098344-43098349
CCCCCGCCCCGexonicInheritedframeshift deletionNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882
c.781delC
c.757delC
c.757delC
c.757delC
c.757delC
p.P261fs
p.P253fs
p.P253fs
p.P253fs
p.P253fs
--Stessman2017 T
PTK7     13808.p1chr6:
43099768-43099768
GAexonicDe novononsynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882
c.G851A
c.G827A
c.G827A
c.G827A
c.G827A
p.R284H
p.R276H
p.R276H
p.R276H
p.R276H
16.87-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PTK7     11256.p1chr6:
43109471-43109471
CTexonicDe novostopgainNM_152881
NM_152880
NM_001270398
NM_002821
NM_152882
c.C1294T
c.C1564T
c.C1708T
c.C1684T
c.C1684T
p.R432X
p.R522X
p.R570X
p.R562X
p.R562X
37.01.648E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PTK7     11726.p1chr6:
43109472-43109472
GAexonicMosaic Pat., De novononsynonymous SNVNM_152881
NM_152880
NM_001270398
NM_002821
NM_152882
c.G1295A
c.G1565A
c.G1709A
c.G1685A
c.G1685A
p.R432Q
p.R522Q
p.R570Q
p.R562Q
p.R562Q
32.0-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Turner2017 G
PTK7     2-1427-003chr6:
43097980-43097980
AGexonicDe novosynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882
c.A507G
c.A483G
c.A483G
c.A483G
c.A483G
p.Q169Q
p.Q161Q
p.Q161Q
p.Q161Q
p.Q161Q
-1.0E-4Yuen2017 G
PTK7     AU005303chr6:
43096771-43096771
GTexonicUnknownnonsynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882
c.G160T
c.G136T
c.G136T
c.G136T
c.G136T
p.G54W
p.G46W
p.G46W
p.G46W
p.G46W
27.1-Stessman2017 T
PTK7     2-1366-004chr6:
43048675-43048675
GAintronicDe novo--Yuen2017 G
PTK7     AU1220301chr6:
43107257-43107257
CTexonicUnknownnonsynonymous SNVNM_001270398
NM_002821
NM_152882
c.C1636T
c.C1612T
c.C1612T
p.R546W
p.R538W
p.R538W
19.84-Stessman2017 T
PTK7     07C70036chr6:
43099815-43099815
CTexonicUnknownnonsynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882
c.C898T
c.C874T
c.C874T
c.C874T
c.C874T
p.R300W
p.R292W
p.R292W
p.R292W
p.R292W
25.14.136E-5Stessman2017 T
PTK7     Lim2017:68551chr6:
43109471-43109471
CTexonicDe novostopgainNM_152881
NM_152880
NM_001270398
NM_002821
NM_152882
c.C1294T
c.C1564T
c.C1708T
c.C1684T
c.C1684T
p.R432X
p.R522X
p.R570X
p.R562X
p.R562X
37.01.648E-5Lim2017 E
PTK7     05C47171chr6:
43107257-43107257
CTexonicUnknownnonsynonymous SNVNM_001270398
NM_002821
NM_152882
c.C1636T
c.C1612T
c.C1612T
p.R546W
p.R538W
p.R538W
19.84-Stessman2017 T
PTK7     M19574chr6:
43127543-43127543
GCexonicUnknownnonsynonymous SNVNM_152881
NM_152880
NM_152882
NM_001270398
NM_002821
c.G2501C
c.G2771C
c.G2723C
c.G2915C
c.G2891C
p.R834P
p.R924P
p.R908P
p.R972P
p.R964P
22.4-Stessman2017 T
PTK7     UK10K_SKUSE5080180chr6:
43107166-43107166
ACexonicDe novosynonymous SNVNM_001270398
NM_002821
NM_152882
c.A1545C
c.A1521C
c.A1521C
p.P515P
p.P507P
p.P507P
-0.0018DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
PTK7     1-0054-004chr6:
43102806-43102806
TCintronicDe novo--Yuen2017 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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