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Results for "PTK7"

Variant Events: 31

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     2-1346-003chr6:
43097640-43097640		TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PTK7     SP0056995chr6:
43044655-43044655		TAexonicnonsynonymous SNVNM_001270398c.T34Ap.S12T5.497-Zhou2022 GE
PTK7     11726_p1chr6:
43109472-43109472		GAexonicDe 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-Fu2022 E
PTK7     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-5Fu2022 E
Trost2022 G
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     SSC09492chr6:
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-Fu2022 E
Trost2022 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-4Trost2022 G
Yuen2017 G
Zhou2022 GE
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--Trost2022 G
Yuen2017 G
PTK7     1-0264-005chr6:
43124910-43124910		TGintronicDe novo--Trost2022 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     5-5131-003chr6:
43055578-43055578		CTintronicDe novo--Trost2022 G
PTK7     SP0129461chr6:
43098343-43098343		ACexonicDe novosynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152881
NM_152882		c.A780C
c.A756C
c.A756C
c.A756C
c.A756C		p.P260P
p.P252P
p.P252P
p.P252P
p.P252P		--Trost2022 G
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     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
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
PTK7     14496.p1chr6:
43110675-43110675		CTintronicDe novo--Turner2016 G
PTK7     1-0508-003chr6:
43125462-43125476		AATATATATATATATAATATATATATATintronicDe novo--Yuen2017 G
PTK7     SSC05630chr6:
43109472-43109472		GAexonicnonsynonymous 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-Antaki2022 GE
PTK7     AU031003chr6:
43074841-43074841		AGintronicDe novo--Yuen2017 G
PTK7     SP0100431chr6:
43106717-43106717		ACexonicDe novosynonymous SNVNM_001270398
NM_002821
NM_152880
NM_152882		c.A1383C
c.A1359C
c.A1359C
c.A1359C		p.S461S
p.S453S
p.S453S
p.S453S		8.498-Fu2022 E
PTK7     mAGRE5347chr6:
43098343-43098344		ACAexonicMaternalframeshift 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		--Cirnigliaro2023 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     SSC12490chr6:
43109471-43109471		CTexonicstopgainNM_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-5Antaki2022 GE
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
Zhou2022 GE
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
Zhou2022 GE
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
Trost2022 G
Turner2017 G
Zhou2022 GE
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     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     1-0054-004chr6:
43102806-43102806		TCintronicDe novo--Trost2022 G
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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