or
or
Exact

Results for "RBMS3"

Variant Events: 120

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
RBMS3     1-0319-003chr3:
29680178-29680178
GAintronicDe novo--Trost2022 G
RBMS3     AU060004chr3:
29324636-29324636
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     MSSNG00045-005chr3:
29693337-29693337
ACintronicDe novo--Trost2022 G
RBMS3     AU060004chr3:
29346566-29346566
CTintronicDe novo--Yuen2017 G
RBMS3     7-0094-003chr3:
29657515-29657515
GAintronicDe novo--Trost2022 G
RBMS3     MSSNG00355-004chr3:
29667430-29667430
AGintronicDe novo--Trost2022 G
RBMS3     1-0756-004chr3:
30365559-30365563
CAAAGCintergenicDe novo--Yuen2017 G
RBMS3     2-1180-003chr3:
30450261-30450261
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
RBMS3     2-1796-003chr3:
29637429-29637429
GAintronicDe novo--Trost2022 G
RBMS3     3-0099-001Achr3:
29655708-29655708
GAintronicDe novo--Trost2022 G
RBMS3     5-5016-003chr3:
29620122-29620123
AGAintronicDe novo--Trost2022 G
RBMS3     1-1138-003chr3:
29621762-29621762
TTCintronicDe novo--Trost2022 G
RBMS3     MSSNG00031-003chr3:
29793529-29793529
TAintronicDe novo--Trost2022 G
RBMS3     MSSNG00037-003chr3:
29801255-29801255
GCintronicDe novo--Trost2022 G
RBMS3     3-0648-000chr3:
29776816-29776816
CTintronicDe novo--Trost2022 G
RBMS3     MT_25.3chr3:
29780811-29780811
GAintronicDe novo--Trost2022 G
RBMS3     MSSNG00018-003chr3:
29744404-29744404
CAintronicDe novo--Trost2022 G
RBMS3     2-1086-003chr3:
29755662-29755662
ATATintronicDe novo--Trost2022 G
RBMS3     2-1493-003chr3:
29718281-29718281
GCintronicDe novo--Trost2022 G
RBMS3     SP0158862chr3:
29738430-29738430
GTintronicDe novo--Trost2022 G
RBMS3     3-0208-000chr3:
29934276-29934276
AGintronicDe novo--Trost2022 G
RBMS3     L7T2M_01chr3:
29937909-29937909
ACintronicDe novo--Trost2022 G
RBMS3     3-0325-000chr3:
29874428-29874428
CGintronicDe novo--Trost2022 G
RBMS3     1-0844-003chr3:
29913837-29913837
ATintronicDe novo--Trost2022 G
RBMS3     MSSNG00390-003chr3:
29825302-29825302
ATintronicDe novo--Trost2022 G
RBMS3     5-0103-003chr3:
29828662-29828662
TAintronicDe novo--Trost2022 G
RBMS3     1-0944-003chr3:
29816146-29816146
CTintronicDe novo--Trost2022 G
RBMS3     7-0367-003chr3:
29821788-29821788
TGintronicDe novo--Trost2022 G
RBMS3     1-0171-005chr3:
30018345-30018345
ACATintronicDe novo--Trost2022 G
RBMS3     1-0319-003chr3:
30020529-30020529
GAintronicDe novo--Trost2022 G
RBMS3     MT_160.4chr3:
29963149-29963149
GAintronicDe novo--Trost2022 G
RBMS3     1-0171-005chr3:
30018339-30018342
TGTGGTTCAintronicDe novo--Trost2022 G
RBMS3     1-0248-003chr3:
29782976-29782976
CTintronicDe novo--Yuen2017 G
RBMS3     2-1821-003chr3:
29955099-29955099
TCintronicDe novo--Trost2022 G
RBMS3     REACH000171chr3:
29956023-29956023
TGintronicDe novo--Trost2022 G
RBMS3     AU070007chr3:
30571871-30571871
CTintergenicDe novo--Yuen2017 G
RBMS3     5-5223-003chr3:
29941368-29941368
TCintronicDe novo--Trost2022 G
RBMS3     7-0354-005chr3:
29946089-29946089
CTintronicDe novo--Trost2022 G
RBMS3     1-0325-003chr3:
30277961-30277961
AGintergenicDe novo--Yuen2017 G
RBMS3     1-0325-003chr3:
29374897-29374897
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     2-0160-003chr3:
30030784-30030784
GGAGGGCintronicDe novo--Trost2022 G
RBMS3     1-0976-003chr3:
30210624-30210624
GAintergenicDe novo--Yuen2017 G
RBMS3     2-1239-003chr3:
29624245-29624245
CAintronicDe novo--Yuen2016 G
Yuen2017 G
RBMS3     AU2250301chr3:
30035699-30035699
TCintronicDe novo--Trost2022 G
RBMS3     13708_p1chr3:
30029683-30029683
CTexonicDe novononsynonymous SNVNM_001003792
NM_001177711
NM_014483
NM_001003793
NM_001177712
c.C1094T
c.C1100T
c.C1100T
c.C1148T
c.C1139T
p.T365M
p.T367M
p.T367M
p.T383M
p.T380M
34.04.124E-5Fu2022 E
RBMS3     2-1415-004chr3:
30611443-30611443
AGintergenicDe novo--Yuen2017 G
RBMS3     1-0507-003chr3:
30311510-30311510
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
RBMS3     1-0554-003chr3:
29582368-29582368
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     1-0541-004chr3:
30263019-30263019
AGintergenicDe novo--Yuen2017 G
RBMS3     AU011604chr3:
30358664-30358664
CTintergenicDe novo--Yuen2017 G
RBMS3     1-0401-003chr3:
29864350-29864350
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     AU4197302chr3:
30017415-30017415
CGintronicDe novo--Yuen2017 G
RBMS3     AU3955303chr3:
30341008-30341008
CTintergenicDe novo--Yuen2017 G
RBMS3     2-1169-003chr3:
29726636-29726636
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     AU4056301chr3:
29742108-29742108
TGintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     PN400121chr3:
30032618-30032618
CTexonicUnknownstopgainNM_001003792
NM_001177711
NM_014483
NM_001003793
NM_001177712
c.C1171T
c.C1177T
c.C1177T
c.C1225T
c.C1216T
p.Q391X
p.Q393X
p.Q393X
p.Q409X
p.Q406X
44.0-Leblond2019 E
RBMS3     AU3859301chr3:
29351426-29351426
GCintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     2-1426-003chr3:
30586521-30586521
AGintergenicDe novo--Yuen2017 G
RBMS3     1-0464-003chr3:
30286547-30286547
CTintergenicDe novo--Yuen2017 G
RBMS3     1-0559-004chr3:
30189167-30189167
AGintergenicDe novo--Yuen2017 G
RBMS3     2-1164-003chr3:
30497105-30497105
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
RBMS3     AU2793301chr3:
29522494-29522494
GTintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     1-0683-004chr3:
29847403-29847403
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     AU3905301chr3:
30128877-30128877
GAintergenicDe novo--Yuen2017 G
RBMS3     A19chr3:
29850749-29850761
TATTATAATAAGGTintronicDe novo--Wu2018 G
RBMS3     AU2525302chr3:
29966970-29966970
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     14693.p1chr3:
29628720-29628720
TTTTTTTGintronicDe novo--Krumm2015 E
RBMS3     AU079204chr3:
30185015-30185015
TAintergenicDe novo--Yuen2017 G
RBMS3     1-0638-003chr3:
29724307-29724320
AAGAGAGAGAGAGAAAGAGAGAGAGAintronicDe novo--Yuen2017 G
RBMS3     1-0995-003chr3:
29442160-29442160
CGintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     1-0551-003chr3:
30477152-30477152
ACintergenicDe novo--Yuen2017 G
RBMS3     1-0745-003chr3:
29498873-29498873
ATintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     AU031204chr3:
30033441-30033441
AGintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     AU3790301chr3:
30131267-30131267
AGintergenicDe novo--Yuen2017 G
RBMS3     7-0197-003chr3:
29596408-29596408
ATintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     1-0558-003chr3:
29398372-29398372
TCintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     2-1425-003chr3:
30051887-30051887
GAdownstreamDe novo--Trost2022 G
Yuen2017 G
RBMS3     2-1066-003chr3:
29428567-29428567
CAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     AU2137304chr3:
29681403-29681403
GCintronicDe novo--Yuen2017 G
RBMS3     AU4237301chr3:
30444530-30444535
ATTTTTATTTTintergenicDe novo--Yuen2017 G
RBMS3     AU4153301chr3:
29466563-29466563
GAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     13708.p1chr3:
30029683-30029683
CTexonicDe novononsynonymous SNVNM_001003792
NM_001177711
NM_014483
NM_001003793
NM_001177712
c.C1094T
c.C1100T
c.C1100T
c.C1148T
c.C1139T
p.T365M
p.T367M
p.T367M
p.T383M
p.T380M
34.04.124E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
RBMS3     11456.p1chr3:
30413873-30413873
GTintergenicDe novo--Turner2016 G
RBMS3     1-0393-003chr3:
30146922-30146922
CTintergenicDe novo--Yuen2017 G
RBMS3     1-0632-003chr3:
30115337-30115337
CTintergenicDe novo--Yuen2017 G
RBMS3     2-1407-003chr3:
30071863-30071863
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
RBMS3     AU3506303chr3:
29856585-29856585
AGintronicDe novo--Yuen2017 G
RBMS3     1-0253-004chr3:
29837073-29837073
CTintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     2-0090-003chr3:
29721741-29721741
CGintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     1-0290-003chr3:
30003261-30003261
ACintronicDe novo--Yuen2017 G
RBMS3     MT_68.3chr3:
29327973-29327973
AGintronicDe novo--Trost2022 G
RBMS3     2-1505-003chr3:
29487304-29487304
AGintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     MSSNG00042-004chr3:
29403677-29403677
CTintronicDe novo--Trost2022 G
RBMS3     2-1694-003chr3:
29431888-29431892
CAAATCintronicDe novo--Trost2022 G
RBMS3     10-1129-005chr3:
29370786-29370786
CAintronicDe novo--Trost2022 G
RBMS3     1-1026-003chr3:
29382437-29382437
TCintronicDe novo--Trost2022 G
RBMS3     MSSNG00040-004chr3:
29337368-29337368
TCintronicDe novo--Trost2022 G
RBMS3     2-1391-004chr3:
29830680-29830680
TAintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     AU1795303chr3:
29363630-29363630
ATintronicDe novo--Trost2022 G
RBMS3     AU3716301chr3:
29862245-29862245
ACintronicDe novo--Yuen2017 G
RBMS3     13069.p1chr3:
30139030-30139030
AGintergenicDe novo--Werling2018 G
RBMS3     MSSNG00033-004chr3:
29329475-29329475
TCintronicDe novo--Trost2022 G
RBMS3     7-0469-003chr3:
29334366-29334367
GAGintronicDe novo--Trost2022 G
RBMS3     AUTPGX_1020chr3:
29477233-29477233
TAintronicDe novo--Trost2022 G
RBMS3     REACH000173chr3:
29517818-29517818
TCintronicDe novo--Trost2022 G
RBMS3     AU4496301chr3:
30036209-30036209
TCintronicDe novo--Trost2022 G
Yuen2017 G
RBMS3     4-0091-003chr3:
29452086-29452086
GTintronicDe novo--Trost2022 G
RBMS3     MSSNG00111-004chr3:
29457622-29457622
CTintronicDe novo--Trost2022 G
RBMS3     L7T2M_01chr3:
29445420-29445420
AGintronicDe novo--Trost2022 G
RBMS3     4-0054-003chr3:
29446905-29446905
GAintronicDe novo--Trost2022 G
RBMS3     MSSNG00255-004chr3:
29433464-29433464
GTintronicDe novo--Trost2022 G
RBMS3     4-0098-003chr3:
29442346-29442346
CTintronicDe novo--Trost2022 G
RBMS3     7-0178-003chr3:
29588980-29588980
CAintronicDe novo--Trost2022 G
RBMS3     MT_181.3chr3:
29618250-29618250
CAintronicDe novo--Trost2022 G
RBMS3     1-0288-004chr3:
29578444-29578444
TCintronicDe novo--Trost2022 G
RBMS3     1-1119-003chr3:
29582551-29582551
CGintronicDe novo--Trost2022 G
RBMS3     10-0008-003chr3:
29536652-29536652
ACintronicDe novo--Trost2022 G
RBMS3     MSSNG00033-004chr3:
29573141-29573141
CTintronicDe novo--Trost2022 G
RBMS3     5-5022-003chr3:
29521257-29521257
TCintronicDe novo--Trost2022 G
RBMS3     1-0469-003chr3:
29528417-29528417
TGintronicDe novo--Trost2022 G
Source Variant Information

, -

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
More