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Results for "SORBS2"

Variant Events: 27

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
SORBS2     AU2165301chr4:
186921524-186921524
CAintergenicDe novo--Yuen2017 G
SORBS2     1-0551-004chr4:
186938472-186938472
ACintergenicDe novo--Yuen2017 G
SORBS2     AU1795303chr4:
186835456-186835456
GAintronicDe novo--Yuen2017 G
SORBS2     AU4234303chr4:
186800289-186800290
TATAAintronicDe novo--Yuen2017 G
SORBS2     1-0119-004chr4:
186734486-186734486
TAintronicDe novo--Yuen2017 G
SORBS2     AU3889305chr4:
186506526-186506530
AAATAAAATAATAdownstreamDe novo--Yuen2017 G
SORBS2     AU030804chr4:
186577796-186577796
GAUTR5De novo--Yuen2017 G
SORBS2     2-0242-003chr4:
186617182-186617182
CAintronicDe novo--Yuen2017 G
SORBS2     AU3760302chr4:
186527926-186527926
CTintronicDe novo--Yuen2017 G
SORBS2     2-0309-004chr4:
186894665-186894665
CTintergenicDe novo--Yuen2017 G
SORBS2     5-0065-003chr4:
186614732-186614732
CAintronicDe novo--Yuen2017 G
SORBS2     Cukier2014:7936chr4:
186583330-186583330
AGexonicUnknownnonsynonymous SNVNM_001145672
NM_021069
NM_001145671
NM_001145673
NM_003603
NM_001145670
NM_001270771
c.T229C
c.T22C
c.T280C
c.T559C
c.T160C
c.T280C
c.T322C
p.F77L
p.F8L
p.F94L
p.F187L
p.F54L
p.F94L
p.F108L
25.60.0089Cukier2014 E
SORBS2     1-0745-003chr4:
186981594-186981594
TGintergenicDe novo--Yuen2017 G
SORBS2     2-0304-004chr4:
186974860-186974860
CCTACTATTTATTTintergenicDe novo--Yuen2017 G
SORBS2     1-0458-005chr4:
186870275-186870275
GAintronicDe novo--Yuen2017 G
SORBS2     2-0244-003chr4:
186894693-186894695
AATAintergenicDe novo--Yuen2017 G
SORBS2     2-1633-003chr4:
186699450-186699450
AGintronicDe novo--Yuen2017 G
SORBS2     1-0141-003chr4:
186630457-186630457
TTCintronicDe novo--Yuen2017 G
SORBS2     1-0720-003chr4:
186713645-186713645
CTintronicDe novo--Yuen2017 G
SORBS2     1-0467-005chr4:
186670351-186670351
GAintronicDe novo--Yuen2017 G
SORBS2     AU4012302chr4:
186793559-186793559
GAintronicDe novo--Yuen2017 G
SORBS2     2-1194-003chr4:
186870518-186870518
GAintronicDe novo--Yuen2016 G
Yuen2017 G
SORBS2     AU4159301chr4:
186567314-186567314
ATintronicDe novo--Yuen2017 G
SORBS2     AU4219302chr4:
186688968-186688968
TCintronicDe novo--Yuen2017 G
SORBS2     11475.p1chr4:
186539779-186539779
GTexonicMosaicnonsynonymous SNVNM_001145674
NM_001145675
NM_001145670
NM_001145672
NM_021069
NM_001145671
NM_001145673
NM_003603
NM_001270771
c.C2311A
c.C775A
c.C1231A
c.C1282A
c.C2599A
c.C1492A
c.C1771A
c.C1297A
c.C2899A
p.P771T
p.P259T
p.P411T
p.P428T
p.P867T
p.P498T
p.P591T
p.P433T
p.P967T
21.8-Dou2017 E
SORBS2     7-0256-003chr4:
186983248-186983248
GAintergenicDe novo--Yuen2017 G
SORBS2     12120.p1chr4:
186551791-186551791
CTintronicDe novo-9.33E-5Krumm2015 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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