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Results for "PROX2"

Variant Events: 12

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
PROX2     383723chr14:
75330026-75330027
CCCexonicInheritedframeshift deletionNM_001080408
NM_001243007
c.511delG
c.511delG
p.G171fs
p.G171fs
--Stessman2017 T
PROX2     M19813chr14:
75323679-75323679
GAexonicUnknownnonsynonymous SNVNM_001080408
NM_001243007
c.C752T
c.C1433T
p.S251F
p.S478F
27.7-Stessman2017 T
PROX2     M08745chr14:
75323611-75323611
GAexonicUnknownstopgainNM_001080408
NM_001243007
c.C820T
c.C1501T
p.Q274X
p.Q501X
36.0-Guo2018 T
Wang2016 T
PROX2     M23110chr14:
75330342-75330342
CTexonicUnknownnonsynonymous SNVNM_001080408
NM_001243007
c.G196A
c.G196A
p.A66T
p.A66T
28.9-Stessman2017 T
PROX2     S8M8Zchr14:
75323607-75323607
GTexonicUnknownnonsynonymous SNVNM_001080408
NM_001243007
c.C824A
c.C1505A
p.A275E
p.A502E
33.08.281E-6Stessman2017 T
PROX2     214-17098-1chr14:
75325148-75325158
TGGGATATCGTTexonicInheritedframeshift deletionNM_001243007c.1365_1374delp.T455fs--Stessman2017 T
PROX2     420007chr14:
75323612-75323613
CCCexonicInheritedframeshift deletionNM_001080408
NM_001243007
c.818delG
c.1499delG
p.R273fs
p.R500fs
--Stessman2017 T
PROX2     M12507chr14:
75325157-75325157
GAexonicMaternalstopgainNM_001243007c.C1366Tp.R456X15.425.992E-5Guo2018 T
Wang2016 T
PROX2     M17652chr14:
75329232-75329232
TCexonicMaternalnonsynonymous SNVNM_001243007c.A1306Gp.I436V7.5259.629E-5Guo2018 T
Wang2016 T
PROX2     iHART1221chr14:
75329942-75329953
TCCTTGCTGGTATexonicMaternalframeshift deletionNM_001080408
NM_001243007
c.585_595del
c.585_595del
p.G195fs
p.G195fs
-8.365E-6Ruzzo2019 G
PROX2     iHART1220chr14:
75329942-75329953
TCCTTGCTGGTATexonicMaternalframeshift deletionNM_001080408
NM_001243007
c.585_595del
c.585_595del
p.G195fs
p.G195fs
-8.365E-6Ruzzo2019 G
PROX2     M08350chr14:
75329232-75329232
TCexonicUnknownnonsynonymous SNVNM_001243007c.A1306Gp.I436V7.5259.629E-5Guo2018 T
Wang2016 T
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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