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Results for "SCHIP1"

Variant Events: 39

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
SCHIP1       2-1359-003chr3:
159535851-159535851
CTintronicDe novo--Yuen2017 G
SCHIP1       AU4013303chr3:
159108777-159108777
GAintronicDe novo--Yuen2017 G
SCHIP1       AU2089301chr3:
159396633-159396633
CTintronicDe novo--Yuen2017 G
SCHIP1       1-0299-003chr3:
159120520-159120520
TCintronicDe novo--Yuen2017 G
SCHIP1       2-1359-003chr3:
159547492-159547492
GTintronicDe novo--Yuen2017 G
SCHIP1       2-1359-003chr3:
159539523-159539523
ACintronicDe novo--Yuen2017 G
SCHIP1       2-1210-003chr3:
159613941-159613941
TCintronicDe novo--Yuen2017 G
SCHIP1       AU3702306chr3:
159387732-159387732
GAintronicDe novo--Yuen2017 G
SCHIP1       AU2000304chr3:
159207358-159207358
CTintronicDe novo--Yuen2017 G
SCHIP1       2-0320-003chr3:
159104787-159104787
CTintronicDe novo--Yuen2017 G
SCHIP1       2-1690-003chr3:
159401707-159401724
TTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
SCHIP1       3-0428-000chr3:
159412394-159412394
AGintronicDe novo--Yuen2017 G
SCHIP1       AU3875301chr3:
159205392-159205399
CTCTATCTCTCTintronicDe novo--Yuen2017 G
SCHIP1       2-0144-003chr3:
159156608-159156608
CAintronicDe novo--Yuen2017 G
SCHIP1       1-0841-003chr3:
159493503-159493503
GAintronicDe novo--Yuen2017 G
SCHIP1       7-0127-003chr3:
159607808-159607808
CTintronicDe novo--Yuen2017 G
SCHIP1       1-0985-003chr3:
159401707-159401724
TTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTintronicDe novo--Yuen2017 G
SCHIP1       1-0303-003chr3:
158995317-158995317
AGintronicDe novo--Yuen2017 G
SCHIP1       AU3727302chr3:
159066591-159066591
TCintronicDe novo--Yuen2017 G
SCHIP1       5-0138-003chr3:
159068519-159068519
TGintronicDe novo--Yuen2017 G
SCHIP1       13649.p1chr3:
159232003-159232003
GAintronicDe novo--Turner2016 G
SCHIP1       AU3729301chr3:
159101870-159101870
CAintronicDe novo--Yuen2017 G
SCHIP1       13951.p1chr3:
159273990-159273990
GAintronicDe novo--Turner2016 G
SCHIP1       14637.p1chr3:
159078371-159078371
CTintronicDe novo--Turner2016 G
SCHIP1       13324.p1chr3:
159135402-159135402
CTintronicDe novo--Turner2016 G
SCHIP1       2-1632-003chr3:
159111549-159111549
TCintronicDe novo--Yuen2017 G
SCHIP1       2-1194-003chr3:
159514867-159514878
TTTTGTTTGTTTTTTTGTTTintronicDe novo--Yuen2017 G
SCHIP1       1-0041-003chr3:
159074979-159074979
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SCHIP1       AU2089302chr3:
159436461-159436461
CAintronicDe novo--Yuen2017 G
SCHIP1       2-1421-003chr3:
159073017-159073017
CGintronicDe novo--Yuen2016 G
SCHIP1       5-0045-003chr3:
159050943-159050943
GAintronicDe novo--Yuen2017 G
SCHIP1       AU066404chr3:
159234276-159234276
AGintronicDe novo--Yuen2017 G
SCHIP1       AU062204chr3:
159001473-159001473
TAintronicDe novo--Yuen2017 G
SCHIP1       12011.p1chr3:
159604035-159604035
CTexonicDe novosynonymous SNVNM_001197108
NM_001197109
NM_001197107
NM_014575
NM_001197114
NM_001197113
c.C222T
c.C189T
c.C879T
c.C918T
c.C1065T
c.C1146T
p.N74N
p.N63N
p.N293N
p.N306N
p.N355N
p.N382N
-7.0E-4Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Turner2016 G
SCHIP1       1-0464-003chr3:
159537031-159537044
GGAGAGAGAGAGAGGGAGAGAGAGAGintronicDe novo--Yuen2017 G
SCHIP1       2-0319-003chr3:
159551682-159551685
CTTGCintronicDe novo--Yuen2017 G
SCHIP1       2-1086-003chr3:
159374723-159374723
GCintronicDe novo--Yuen2017 G
SCHIP1       2-0319-004chr3:
159551682-159551685
CTTGCintronicDe novo--Yuen2017 G
SCHIP1       AU4260303chr3:
159340999-159340999
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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