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Results for "SPTBN2"

Variant Events: 30

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
SPTBN2     SP0194582chr11:
66472516-66472516
GAexonicDe novononsynonymous SNVNM_006946c.C2231Tp.A744V13.7-Trost2022 G
SPTBN2     SP0224657chr11:
66481593-66481593
GTexonicDe novononsynonymous SNVNM_006946c.C625Ap.L209I23.4-Trost2022 G
SPTBN2     MSSNG00421-007chr11:
66469210-66469210
CAintronicDe novo--Trost2022 G
SPTBN2     MSSNG00421-007chr11:
66469589-66469589
ATintronicDe novo--Trost2022 G
SPTBN2     SP0194582chr11:
66466506-66466506
CTexonicDe novononsynonymous SNVNM_006946c.G3824Ap.R1275Q29.94.122E-5Trost2022 G
SPTBN2     SP0200943chr11:
66467984-66467984
CTintronicDe novo--Trost2022 G
SPTBN2     A1378Bchr11:
66457704-66457704
TGexonicDe novosynonymous SNVNM_006946c.A5616Cp.G1872G--Fu2022 E
SPTBN2     14432.p1chr11:
66463877-66463877
GTexonicnonsynonymous SNVNM_006946c.C4149Ap.N1383K16.57-Zhou2022 GE
SPTBN2     SP0119541chr11:
66457625-66457625
GAexonicnonsynonymous SNVNM_006946c.C5695Tp.R1899C18.027.468E-5Zhou2022 GE
SPTBN2     SP0131494chr11:
66458924-66458924
GAexonicDe novononsynonymous SNVNM_006946c.C5396Tp.A1799V34.08.521E-6Trost2022 G
SPTBN2     mAGRE5050chr11:
66482785-66482786
CTCexonicMaternalframeshift deletionNM_006946c.390delAp.K130fs--Cirnigliaro2023 G
SPTBN2     PN400515chr11:
66457517-66457517
GAexonicDe novo, Unknownnonsynonymous SNVNM_006946c.C5803Tp.R1935C19.862.476E-5Leblond2019 E
Leblond2019 E
SPTBN2     Wang2023:65chr11:
66472936-66472936
TTAexonicDe novoframeshift insertionNM_006946c.1810dupTp.Y604fs--Wang2023 E
SPTBN2     2-1235-003chr11:
66482648-66482649
AGGAAintronicDe novo--Trost2022 G
SPTBN2     2-1638-003chr11:
66489442-66489442
TCupstreamDe novo--Trost2022 G
SPTBN2     2-0122-004chr11:
66482648-66482649
AGGAAintronicDe novo--Trost2022 G
SPTBN2     PN400127chr11:
66478111-66478111
CTexonicUnknownnonsynonymous SNVNM_006946c.G1015Ap.G339R27.4-Leblond2019 E
SPTBN2     2-0210-004chr11:
66482648-66482649
AGGAAintronicDe novo--Trost2022 G
SPTBN2     19283-30834chr11:
66454910-66454910
TCexonicnonsynonymous SNVNM_006946c.A6710Gp.K2237R28.8-Callaghan2019 G
SPTBN2     DEASD_0346_001chr11:
66453370-66453370
CTexonicDe novononsynonymous SNVNM_006946c.G7145Ap.R2382H26.2-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPTBN2     SP0144084chr11:
66472163-66472163
CTexonicDe novononsynonymous SNVNM_006946c.G2584Ap.G862R18.72-Fu2022 E
Trost2022 G
Zhou2022 GE
SPTBN2     SP0120688chr11:
66455060-66455060
CTexonicDe novononsynonymous SNVNM_006946c.G6560Ap.R2187Q13.231.705E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SPTBN2     NDAR_INVLR026ZEP_wes1chr11:
66488522-66488522
CTintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
SPTBN2     SP0005693chr11:
66472229-66472229
GAexonicDe novononsynonymous SNVNM_006946c.C2518Tp.R840W16.094.729E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SPTBN2     EGAN00001101281chr11:
66482759-66482759
AGexonicDe novosynonymous SNVNM_006946c.T417Cp.H139H--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPTBN2     2-1629-003chr11:
66477606-66477606
CTintronicDe novo--Trost2022 G
Yuen2017 G
SPTBN2     SP0096085chr11:
66472719-66472719
GAexonicDe novosynonymous SNVNM_006946c.C2028Tp.A676A--Fu2022 E
Trost2022 G
Zhou2022 GE
SPTBN2     SP0020602chr11:
66468516-66468516
CTexonicDe novosynonymous SNVNM_006946c.G3054Ap.L1018L--Fu2022 E
Trost2022 G
Zhou2022 GE
SPTBN2     SP0107296chr11:
66473333-66473333
AGintronicDe novo-9.99E-6Fu2022 E
Trost2022 G
SPTBN2     SP0065763chr11:
66476484-66476484
GAexonicDe novosynonymous SNVNM_006946c.C1080Tp.T360T--Fu2022 E
Trost2022 G
Zhou2022 GE
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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