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Results for "PROX2"

Variant Events: 18

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     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     M17652chr14:
75329232-75329232		TCexonicMaternalnonsynonymous SNVNM_001243007c.A1306Gp.I436V7.5259.629E-5Guo2018 T
Wang2016 T
PROX2     1-1182-003chr14:
75326764-75326764		CTintronicDe novo--Trost2022 G
PROX2     iHART1221chr14:
75329942-75329953		TCCTTGCTGGTATexonicMaternalframeshift deletionNM_001080408
NM_001243007		c.585_595del
c.585_595del		p.G195fs
p.G195fs		-8.365E-6Ruzzo2019 G
PROX2     SP0059686chr14:
75329632-75329632		AGexonicDe novosynonymous SNVNM_001243007c.T906Cp.N302N--Fu2022 E
Trost2022 G
Zhou2022 GE
PROX2     iHART1220chr14:
75329942-75329953		TCCTTGCTGGTATexonicMaternalframeshift deletionNM_001080408
NM_001243007		c.585_595del
c.585_595del		p.G195fs
p.G195fs		-8.365E-6Ruzzo2019 G
PROX2     383723chr14:
75330026-75330027		CCCexonicInheritedframeshift deletionNM_001080408
NM_001243007		c.511delG
c.511delG		p.G171fs
p.G171fs		--Stessman2017 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     mAGRE4485chr14:
75330321-75330321		GAexonicMaternalstopgainNM_001080408
NM_001243007		c.C217T
c.C217T		p.R73X
p.R73X		16.79-Cirnigliaro2023 G
PROX2     M08350chr14:
75329232-75329232		TCexonicUnknownnonsynonymous SNVNM_001243007c.A1306Gp.I436V7.5259.629E-5Guo2018 T
Wang2016 T
PROX2     mAGRE4318chr14:
75330240-75330240		GAexonicMaternalstopgainNM_001080408
NM_001243007		c.C298T
c.C298T		p.R100X
p.R100X		25.18.687E-6Cirnigliaro2023 G
PROX2     mAGRE1221chr14:
75329942-75329953		TCCTTGCTGGTATexonicMaternalframeshift deletionNM_001080408
NM_001243007		c.585_595del
c.585_595del		p.G195fs
p.G195fs		-8.365E-6Cirnigliaro2023 G
PROX2     mAGRE1220chr14:
75329942-75329953		TCCTTGCTGGTATexonicMaternalframeshift deletionNM_001080408
NM_001243007		c.585_595del
c.585_595del		p.G195fs
p.G195fs		-8.365E-6Cirnigliaro2023 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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