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Results for "RAI1"

Variant Events: 13

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
RAI1     AU133Achr17:
17697926-17697926
CTexonicDe novononsynonymous SNVNM_030665c.C1664Tp.T555I15.34-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RAI1     NDAR_INVGW026YKM_wes1chr17:
17698609-17698609
GAexonicDe novononsynonymous SNVNM_030665c.G2347Ap.D783N3.738-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
RAI1     2-1093-005chr17:
17623930-17623930
CTintronicDe novo--Yuen2017 G
RAI1     AU054304chr17:
17691451-17691451
GCintronicDe novo--Yuen2017 G
RAI1     1-0303-003chr17:
17586227-17586227
GTintronicDe novo--Yuen2017 G
RAI1     09C92779chr17:
17696670-17696671
AGAexonicDe novoframeshift deletionNM_030665c.409delGp.G137fs--Satterstrom2020 E
RAI1     1-0402-004chr17:
17628575-17628575
CCGintronicDe novo--Yuen2017 G
RAI1     2-1725-003chr17:
17688693-17688695
AGTAintronicDe novo--Yuen2017 G
RAI1     AU4273304chr17:
17641483-17641483
GAintronicDe novo--Yuen2017 G
RAI1     D’Gama2015:4671chr17:
17700661-17700661
CTexonicUnknownnonsynonymous SNVNM_030665c.C4399Tp.P1467S12.16-D’Gama2015 T
RAI1     1-0225-003chr17:
17626388-17626388
AGintronicDe novo--Yuen2017 G
RAI1     AU076705chr17:
17588960-17588960
GCintronicDe novo--Yuen2017 G
RAI1     12703.p1chr17:
17699836-17699837
AGAexonicDe novoframeshift deletionNM_030665c.3575delGp.S1192fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 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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