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Results for "SOS2"

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
SOS2     AU3371302chr14:
50695968-50695968
TAintronicDe novo--Yuen2017 G
SOS2     1-0332-003chr14:
50704378-50704381
ATGTAintergenicDe novo-0.0034Yuen2017 G
SOS2     AU2293301chr14:
50704978-50704978
CTintergenicDe novo--Yuen2017 G
SOS2     Cukier2014:37425chr14:
50655380-50655380
CGexonicUnknownnonsynonymous SNVNM_006939c.G549Cp.L183F10.590.001Cukier2014 E
SOS2     MR_1408chr14:
50585201-50585201
GCexonicDe novononsynonymous SNVNM_006939c.C3860Gp.P1287R9.529-Satterstrom2020 E
SOS2     Cukier2014:37024chr14:
50655307-50655307
CTexonicUnknownnonsynonymous SNVNM_006939c.G622Ap.A208T20.60.0185Cukier2014 E
SOS2     A17chr14:
50673613-50673613
CTintronicDe novo--Wu2018 G
SOS2     Cukier2014:37024chr14:
50655357-50655357
GCexonicUnknownnonsynonymous SNVNM_006939c.C572Gp.P191R15.960.0046Cukier2014 E
SOS2     11108.p1chr14:
50628192-50628192
GTintronicMosaic--Dou2017 E
SOS2     AU047704chr14:
50584776-50584776
ACUTR3De novo--Yuen2017 G
SOS2     AU066104chr14:
50658389-50658389
ACintronicDe novo--Yuen2017 G
SOS2     PN400124chr14:
50682137-50682137
CGintronicInherited-0.0054Leblond2019 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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