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Results for "RAI1"

Variant Events: 31

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     2-1093-005chr17:
17623930-17623930
CTintronicDe novo--Trost2022 G
Yuen2017 G
RAI1     SP0176016chr17:
17707069-17707069
GCsplicingDe novosplicing12.8-Trost2022 G
Zhou2022 GE
RAI1     AU054304chr17:
17691451-17691451
GCintronicDe novo--Trost2022 G
Yuen2017 G
RAI1     SP0195693chr17:
17700603-17700603
GGAexonicframeshift insertionNM_030665c.4342dupAp.R1447fs--Zhou2022 GE
RAI1     SP0200526chr17:
17699140-17699141
CGCexonicframeshift deletionNM_030665c.2879delGp.R960fs--Zhou2022 GE
RAI1     1-0303-003chr17:
17586227-17586227
GTintronicDe novo--Trost2022 G
Yuen2017 G
RAI1     09C92779chr17:
17696670-17696671
AGAexonicDe novoframeshift deletionNM_030665c.409delGp.G137fs--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RAI1     SP0012243chr17:
17700972-17700972
CTexonicDe novosynonymous SNVNM_030665c.C4710Tp.P1570P-1.654E-5Fu2022 E
Trost2022 G
Zhou2022 GE
RAI1     1-1128-003chr17:
17613979-17613980
AGAintronicDe novo--Trost2022 G
RAI1     2-1725-003chr17:
17688693-17688695
AGTAintronicDe novo--Trost2022 G
Yuen2017 G
RAI1     AU4273304chr17:
17641483-17641483
GAintronicDe novo--Trost2022 G
Yuen2017 G
RAI1     SP0081029chr17:
17699911-17699911
CTexonicDe novononsynonymous SNVNM_030665c.C3649Tp.R1217W11.79-Fu2022 E
Trost2022 G
Zhou2022 GE
RAI1     2-0142-003chr17:
17622057-17622057
AAACTGintronicDe novo--Trost2022 G
RAI1     D’Gama2015:4671chr17:
17700661-17700661
CTexonicUnknownnonsynonymous SNVNM_030665c.C4399Tp.P1467S12.16-D’Gama2015 T
RAI1     1-0225-003chr17:
17626388-17626388
AGintronicDe novo--Trost2022 G
Yuen2017 G
RAI1     SP0056427chr17:
17712691-17712691
TGintronicDe novo--Fu2022 E
RAI1     12703.p1chr17:
17699836-17699837
AGAexonicDe novoframeshift deletionNM_030665c.3575delGp.S1192fs--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
RAI1     Wang2023:659chr17:
17699527-17699527
CTexonicDe novostopgainNM_030665c.C3265Tp.R1089X43.0-Wang2023 E
RAI1     AU133Achr17:
17697926-17697926
CTexonicDe novononsynonymous SNVNM_030665c.C1664Tp.T555I15.34-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RAI1     NDAR_INVGW026YKM_wes1chr17:
17698609-17698609
GAexonicDe novononsynonymous SNVNM_030665c.G2347Ap.D783N3.738-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RAI1     MSSNG00344-003chr17:
17673442-17673442
CTintronicDe novo--Trost2022 G
RAI1     2-1433-004chr17:
17679958-17679958
CGintronicDe novo--Trost2022 G
RAI1     2-0142-003chr17:
17622060-17622061
TGAAintronicDe novo--Trost2022 G
RAI1     MSSNG00255-005chr17:
17672579-17672579
CTintronicDe novo--Trost2022 G
RAI1     Krgovic2022:035820chr17:
17698115-17698116
TCTexonicDe novoframeshift deletionNM_030665c.1854delCp.I618fs--Krgovic2022 E
RAI1     SP0033688chr17:
17700940-17700940
CTexonicDe novostopgainNM_030665c.C4678Tp.R1560X45.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
RAI1     SSC06117chr17:
17699836-17699837
AGAexonicDe novoframeshift deletionNM_030665c.3575delGp.S1192fs--Antaki2022 GE
Chan2022 G
RAI1     1-0402-004chr17:
17628575-17628575
CCGintronicDe novo--Yuen2017 G
RAI1     AU076705chr17:
17588960-17588960
GCintronicDe novo--Trost2022 G
Yuen2017 G
RAI1     12703_p1chr17:
17699836-17699837
AGAexonicDe novoframeshift deletionNM_030665c.3575delGp.S1192fs--Fu2022 E
RAI1     Wang2023:544chr17:
17699527-17699527
CTexonicDe novostopgainNM_030665c.C3265Tp.R1089X43.0-Wang2023 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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