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Results for "SSBP3"

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
SSBP3     2-0142-003chr1:
54868456-54868456
GAintronicDe novo--Yuen2017 G
SSBP3     2-1153-003chr1:
54882852-54882852
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
SSBP3     AU3912303chr1:
54967150-54967150
CGintergenicDe novo--Yuen2017 G
SSBP3     14578.p1chr1:
54694107-54694107
CTintronicDe novo-3.3E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SSBP3     2-0122-004chr1:
54968385-54968385
CTintergenicDe novo--Yuen2017 G
SSBP3     2-1268-003chr1:
54976318-54976318
CGintergenicDe novo--Yuen2017 G
SSBP3     2-1268-003chr1:
54976313-54976313
CGintergenicDe novo--Yuen2017 G
SSBP3     7-0174-003chr1:
54856224-54856224
CTintronicDe novo--Yuen2017 G
SSBP3     AU3517301chr1:
55003458-55003458
GAintergenicDe novo--Yuen2017 G
SSBP3     AU079104chr1:
54774789-54774789
CTintronicDe novo--Yuen2017 G
SSBP3     1-0441-003chr1:
54980934-54980934
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
SSBP3     2-1425-004chr1:
54968751-54968751
TCintergenicDe novo--Yuen2017 G
SSBP3     2-0102-004chr1:
54989145-54989145
TCintergenicDe novo--Yuen2017 G
SSBP3     1-0994-003chr1:
54733841-54733841
ACintronicDe novo--Yuen2017 G
SSBP3     AU011903chr1:
54853382-54853382
GCintronicDe novo--Yuen2017 G
SSBP3     14297.p1chr1:
54870614-54870614
GAintronicDe novo-8.829E-6Krumm2015 E
Satterstrom2020 E
SSBP3     2-1089-003chr1:
54710217-54710217
GCintronicDe novo--Yuen2017 G
SSBP3     AU036203chr1:
54778175-54778175
TGintronicDe novo--Yuen2017 G
SSBP3     AU3764302chr1:
54925210-54925210
TGintergenicDe novo--Yuen2017 G
SSBP3     AU1223303chr1:
54736914-54736914
GCintronicDe 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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