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Results for "RYBP"

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
RYBP     2-1241-003chr3:
72456348-72456348
GAintronicDe novo--Yuen2016 G
Yuen2017 G
RYBP     3-0456-000Bchr3:
72678611-72678611
ACintergenicDe novo--Yuen2017 G
RYBP     AU056005chr3:
72609308-72609308
CAintergenicDe novo--Yuen2017 G
RYBP     2-1235-003chr3:
72742276-72742276
TAintergenicDe novo--Yuen2017 G
RYBP     3-0456-000chr3:
72678611-72678611
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
RYBP     AU3713301chr3:
72625647-72625654
TTTTATTTTTTTintergenicDe novo--Yuen2017 G
RYBP     1-0380-003chr3:
72470422-72470422
CTintronicDe novo--Yuen2017 G
RYBP     1-0336-003chr3:
72639185-72639185
AGintergenicDe novo--Yuen2017 G
RYBP     2-1502-003chr3:
72588526-72588526
GAintergenicDe novo--Yuen2017 G
RYBP     AU3692301chr3:
72496004-72496004
GCupstreamDe novo--Yuen2017 G
RYBP     AU071703chr3:
72788792-72788792
CCAGAGintergenicDe novo--Yuen2017 G
RYBP     2-0309-004chr3:
72733364-72733364
GAintergenicDe novo--Yuen2017 G
RYBP     AU4235303chr3:
72678596-72678596
TCintergenicDe novo--Yuen2017 G
RYBP     2-1288-003chr3:
72527304-72527304
GAintergenicDe novo--Yuen2017 G
RYBP     1-0604-003chr3:
72458469-72458469
GAintronicDe novo--Yuen2017 G
RYBP     2-1117-003chr3:
72504123-72504123
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
RYBP     DEASD_1096_001chr3:
72427578-72427578
CCGACATexonicDe novoframeshift insertionNM_012234c.614_615insATGTCp.T205fs--Satterstrom2020 E
RYBP     A12chr3:
72650296-72650296
GAintergenicDe novo--Wu2018 G
RYBP     2-1702-003chr3:
72648795-72648795
GAintergenicDe novo--Yuen2017 G
RYBP     AU4263304chr3:
72507051-72507051
GAintergenicDe novo--Yuen2017 G
RYBP     AU034903chr3:
72623627-72623627
GAintergenicDe novo--Yuen2017 G
RYBP     2-1461-003chr3:
72735397-72735397
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
RYBP     2-0045-003chr3:
72505606-72505606
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
RYBP     2-1729-003chr3:
72718421-72718421
AGintergenicDe novo--Yuen2017 G
RYBP     1-0597-003chr3:
72641635-72641635
TCintergenicDe novo--Yuen2017 G
RYBP     5-0017-004chr3:
72677320-72677320
CTintergenicDe novo--Yuen2017 G
RYBP     AU3368303chr3:
72498856-72498856
AGintergenicDe 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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