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Results for "RBMS1"

Variant Events: 43

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
RBMS1     1-0393-003chr2:
161434718-161434718
CTintergenicDe novo--Yuen2017 G
RBMS1     AU025704chr2:
161314588-161314588
CTintronicDe novo--Trost2022 G
Yuen2017 G
RBMS1     AU1860302chr2:
161985329-161985329
CAintergenicDe novo--Yuen2017 G
RBMS1     AU069603chr2:
161971956-161971956
GAintergenicDe novo--Yuen2017 G
RBMS1     AU3124304chr2:
161613676-161613676
GAintergenicDe novo--Yuen2017 G
RBMS1     1-0481-003chr2:
161803757-161803757
CCTGTintergenicDe novo--Yuen2017 G
RBMS1     2-1245-003chr2:
161774848-161774848
TCintergenicDe novo--Yuen2017 G
RBMS1     3-0439-000chr2:
161975415-161975415
CAintergenicDe novo--Yuen2016 G
RBMS1     AU1542303chr2:
161195607-161195607
GTintronicDe novo--Trost2022 G
Yuen2017 G
RBMS1     AU000704chr2:
161484092-161484095
CAAACAAAAintergenicDe novo--Yuen2017 G
RBMS1     MSSNG00343-003chr2:
161135138-161135138
GAexonicDe novononsynonymous SNVNM_002897
NM_016836
c.C974T
c.C983T
p.T325I
p.T328I
22.4-Trost2022 G
Zhou2022 GE
RBMS1     AU071204chr2:
161672747-161672747
AGintergenicDe novo--Yuen2017 G
RBMS1     1-0582-003chr2:
161278416-161278416
TCintronicDe novo--Yuen2017 G
RBMS1     AU3912301chr2:
161457771-161457771
TCintergenicDe novo--Yuen2017 G
RBMS1     AU2162302chr2:
161360373-161360373
AGintergenicDe novo--Yuen2017 G
RBMS1     AU3768302chr2:
161695097-161695097
CAintergenicDe novo--Yuen2017 G
RBMS1     AU3782303chr2:
161474204-161474204
GAintergenicDe novo--Yuen2017 G
RBMS1     2-1360-003chr2:
161860717-161860717
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
RBMS1     1-0388-003chr2:
161630333-161630333
TAintergenicDe novo--Yuen2017 G
RBMS1     5-0148-003chr2:
161723535-161723535
GAintergenicDe novo--Yuen2017 G
RBMS1     7-0119-003chr2:
161350870-161350870
CAupstreamDe novo--Trost2022 G
Yuen2017 G
RBMS1     AU3052301chr2:
161548556-161548556
TCintergenicDe novo--Yuen2017 G
RBMS1     AU3695303chr2:
161277807-161277807
CGintronicDe novo--Trost2022 G
RBMS1     3-0526-000chr2:
161284230-161284230
AGintronicDe novo--Trost2022 G
RBMS1     AU3794301chr2:
161745104-161745104
TCintergenicDe novo--Yuen2017 G
RBMS1     7-0361-003chr2:
161273140-161273140
TAintronicDe novo--Trost2022 G
RBMS1     2-1398-003chr2:
161730893-161730893
GCintergenicDe novo--Yuen2017 G
RBMS1     7-0361-003chr2:
161273147-161273147
CAintronicDe novo--Trost2022 G
RBMS1     7-0119-003chr2:
161765566-161765566
CTintergenicDe novo--Yuen2017 G
RBMS1     5-5027-003chr2:
161178456-161178456
TCintronicDe novo--Trost2022 G
RBMS1     3-0063-000chr2:
161254197-161254197
GAintronicDe novo--Trost2022 G
RBMS1     2-1335-004chr2:
161368755-161368755
CAintergenicDe novo--Yuen2017 G
RBMS1     7-0068-003chr2:
161701073-161701073
CTintergenicDe novo--Yuen2017 G
RBMS1     MSSNG00412-003chr2:
161159421-161159421
ACintronicDe novo--Trost2022 G
RBMS1     1-0142-005chr2:
161754538-161754541
GCTTGintergenicDe novo--Yuen2017 G
RBMS1     3-0114-000chr2:
161288548-161288548
TCintronicDe novo--Trost2022 G
RBMS1     AU3787302chr2:
161625844-161625844
AGintergenicDe novo--Yuen2017 G
RBMS1     AU4153301chr2:
161142104-161142104
GAintronicDe novo--Yuen2017 G
RBMS1     SMHC01663d000chr2:
161132210-161132210
GAexonicDe novostopgainNM_002897
NM_016836
c.C1150T
c.C1159T
p.Q384X
p.Q387X
37.0-Yuan2023 E
RBMS1     MSSNG00047-004Achr2:
161346286-161346286
TTAintronicDe novo--Trost2022 G
RBMS1     5-0099-003chr2:
161713676-161713676
CTintergenicDe novo--Yuen2017 G
RBMS1     7-0001-003chr2:
161679306-161679306
CGintergenicDe novo--Yuen2017 G
RBMS1     AU4463303chr2:
161542871-161542871
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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