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Results for "WDR87"

Variant Events: 11

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
WDR87     iHART2550chr19:
38379432-38379432
GGTexonicPaternalframeshift insertionNM_001291088
NM_031951
c.4878dupA
c.4761dupA
p.R1627fs
p.R1588fs
-4.0E-4Ruzzo2019 G
WDR87     iHART2549chr19:
38379432-38379432
GGTexonicPaternalframeshift insertionNM_001291088
NM_031951
c.4878dupA
c.4761dupA
p.R1627fs
p.R1588fs
-4.0E-4Ruzzo2019 G
WDR87     iHART2687chr19:
38385952-38385952
GAexonicPaternalstopgainNM_001291088
NM_031951
c.C391T
c.C274T
p.R131X
p.R92X
27.84.606E-5Ruzzo2019 G
WDR87     07C70671chr19:
38378324-38378324
GAexonicDe novononsynonymous SNVNM_001291088
NM_031951
c.C5987T
c.C5870T
p.A1996V
p.A1957V
6.095-Satterstrom2020 E
WDR87     Lim2017:37087chr19:
38377481-38377481
TCexonicDe novononsynonymous SNVNM_001291088
NM_031951
c.A6830G
c.A6713G
p.E2277G
p.E2238G
5.7324.593E-5Lim2017 E
WDR87     iHART2688chr19:
38385952-38385952
GAexonicPaternalstopgainNM_001291088
NM_031951
c.C391T
c.C274T
p.R131X
p.R92X
27.84.606E-5Ruzzo2019 G
WDR87     14256.p1chr19:
38379997-38379997
TCexonicMosaicsynonymous SNVNM_001291088
NM_031951
c.A4314G
c.A4197G
p.S1438S
p.S1399S
--Dou2017 E
Krupp2017 E
WDR87     14644.p1chr19:
38377481-38377481
TCexonicDe novononsynonymous SNVNM_001291088
NM_031951
c.A6830G
c.A6713G
p.E2277G
p.E2238G
5.7324.593E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
WDR87     iHART1176chr19:
38378288-38378290
CTTCexonicPaternalframeshift deletionNM_001291088
NM_031951
c.6021_6022del
c.5904_5905del
p.K2007fs
p.K1968fs
-4.366E-5Ruzzo2019 G
WDR87     A2chr19:
38391003-38391003
CTintronicDe novo--Wu2018 G
WDR87     111311chr19:
38377803-38377803
CAexonicstopgainNM_001291088
NM_031951
c.G6508T
c.G6391T
p.E2170X
p.E2131X
47.0-Woodbury-Smith2022 E
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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