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Results for "SOS1"

Variant Events: 17

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
SOS1     1-0590-003chr2:
39326380-39326380
TCintronicDe novo--Yuen2017 G
SOS1     AU045512chr2:
39261693-39261693
TCintronicDe novo--Yuen2017 G
SOS1     13874.p1chr2:
39247892-39247892
CTintronicDe novo--Turner2016 G
SOS1     AU036203chr2:
39267802-39267802
TCintronicDe novo--Yuen2017 G
SOS1     AU3779302chr2:
39317845-39317845
CTintronicDe novo--Yuen2017 G
SOS1     AU4479301chr2:
39333548-39333548
GAintronicDe novo--Yuen2017 G
SOS1     2-0272-004chr2:
39314837-39314837
AGintronicDe novo--Yuen2017 G
SOS1     5-0050-004chr2:
39315063-39315063
TGintronicDe novo--Yuen2017 G
SOS1     2-1454-003chr2:
39302891-39302891
AGintronicDe novo--Yuen2017 G
SOS1     2-1329-003chr2:
39249972-39249972
CTexonicInheritednonsynonymous SNVNM_005633c.G1597Ap.E533K26.8-Jiang2013 G
SOS1     1-0052-003chr2:
39314837-39314837
AGintronicDe novo--Yuen2017 G
SOS1     iHART2690chr2:
39216456-39216456
CTsplicingPaternalsplicing19.581.0E-4Ruzzo2019 G
SOS1     iHART2691chr2:
39216456-39216456
CTsplicingPaternalsplicing19.581.0E-4Ruzzo2019 G
SOS1     1-0413-003chr2:
39341736-39341736
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SOS1     1-0978-003chr2:
39360693-39360697
TCCCCTCCCCCintergenicDe novo--Yuen2017 G
SOS1     1-0092-004chr2:
39394209-39394211
CATCintergenicDe novo--Yuen2017 G
SOS1     AU4211304chr2:
39236204-39236204
AGintronicDe novo--Yuen2017 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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