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Results for "VAV3"

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
VAV3     14642.p1chr1:
108130484-108130484
GAintronicDe novo--Turner2016 G
VAV3     2-1094-004chr1:
108113398-108113398
TCdownstreamDe novo--Yuen2017 G
VAV3     AU3680302chr1:
108117235-108117235
TCintronicDe novo--Yuen2017 G
VAV3     12087.p1chr1:
108303413-108303414
AGAexonicDe novoframeshift deletionNM_006113c.1009delCp.L337fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
VAV3     2-1360-003chr1:
108403599-108403599
AGintronicDe novo--Yuen2016 G
Yuen2017 G
VAV3     5-0087-003chr1:
108460067-108460067
CTintronicDe novo--Yuen2017 G
VAV3     1-0153-005chr1:
108113604-108113604
AGdownstreamDe novo--Yuen2017 G
VAV3     1-0412-003chr1:
108113620-108113620
TTCCGGGdownstreamDe novo--Yuen2017 G
VAV3     5-0050-004chr1:
108113620-108113620
TTCCGGGdownstreamDe novo--Yuen2017 G
VAV3     2-1255-003chr1:
108267459-108267459
AGintronicDe novo--Yuen2017 G
VAV3     2-1383-003chr1:
108422909-108422909
AGintronicDe novo--Yuen2017 G
VAV3     2-1591-003chr1:
108404284-108404284
GAintronicDe novo--Yuen2017 G
VAV3     AU024607chr1:
108260779-108260779
TCintronicDe novo--Yuen2017 G
VAV3     09C90753Achr1:
108138879-108138879
GCexonicDe novononsynonymous SNVNM_001079874
NM_006113
c.C625G
c.C2305G
p.P209A
p.P769A
13.52-DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
VAV3     1-0200-004chr1:
108321598-108321598
GAintronicDe novo--Yuen2017 G
VAV3     AU4149301chr1:
108414275-108414275
AGintronicDe novo--Yuen2017 G
VAV3     2-0273-003chr1:
108113398-108113398
TCdownstreamDe novo--Yuen2017 G
VAV3     2-1360-003chr1:
108403597-108403597
TCintronicDe novo--Yuen2017 G
VAV3     1-0625-003chr1:
108113398-108113398
TCdownstreamDe novo--Yuen2017 G
VAV3     13949.p1chr1:
108309132-108309132
TCexonicDe novononsynonymous SNVNM_006113c.A758Gp.H253R7.0521.727E-5Lim2017 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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