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Results for "SPTB"

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
SPTB     JASD_Fam0080chr14:
65220412-65220412
TCexonicDe novononsynonymous SNVNM_001024858c.A6445Gp.T2149A6.447-Takata2018 E
SPTB     AU1404302chr14:
65351451-65351451
CTintergenicDe novo--Yuen2017 G
SPTB     1726002chr14:
65262278-65262278
TCexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.A1421G
c.A1421G
p.Y474C
p.Y474C
20.4-Fu2022 E
SPTB     PN400246chr14:
65271803-65271803
GAexonicUnknownnonsynonymous SNVNM_000347
NM_001024858
c.C154T
c.C154T
p.R52W
p.R52W
22.5-Leblond2019 E
SPTB     C1710::08C79630chr14:
65249067-65249067
GAexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.C4207T
c.C4207T
p.R1403W
p.R1403W
24.14.12E-5Trost2022 G
Zhou2022 GE
SPTB     1-0339-004chr14:
65320636-65320636
GAintergenicDe novo--Trost2022 G
Yuen2017 G
SPTB     PN400323chr14:
65237717-65237717
CAexonicUnknownnonsynonymous SNVNM_000347
NM_001024858
c.G5684T
c.G5684T
p.R1895L
p.R1895L
29.5-Leblond2019 E
SPTB     SP0031986chr14:
65233334-65233334
CTUTR3De novo--Fu2022 E
Trost2022 G
SPTB     3-0107-001chr14:
65311529-65311529
CAintergenicDe novo--Trost2022 G
SPTB     SP0071989chr14:
65289729-65289729
GAexonicDe novosynonymous SNVNM_000347
NM_001024858
c.C84T
c.C84T
p.D28D
p.D28D
-8.237E-6Fu2022 E
Trost2022 G
Zhou2022 GE
SPTB     3-0731-001Achr14:
65312003-65312003
GAintergenicDe novo--Trost2022 G
SPTB     SP0031495chr14:
65258598-65258598
GAintronicDe novo--Fu2022 E
Trost2022 G
SPTB     5-1009-003chr14:
65227837-65227837
GCintronicDe novo--Trost2022 G
SPTB     08C79630chr14:
65249067-65249067
GAexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.C4207T
c.C4207T
p.R1403W
p.R1403W
24.14.12E-5Satterstrom2020 E
SPTB     SP0103630chr14:
65253070-65253070
ACintronicDe novo--Fu2022 E
SPTB     MSSNG00439-004chr14:
65300805-65300805
CTintergenicDe novo--Trost2022 G
SPTB     AU218Achr14:
65253441-65253441
TCexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.A3242G
c.A3242G
p.Q1081R
p.Q1081R
16.34-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SPTB     MSSNG00206-003chr14:
65218133-65218133
CTintronicDe novo--Trost2022 G
SPTB     2-1336-004chr14:
65220298-65220298
GAexonicDe novononsynonymous SNVNM_001024858c.C6559Tp.R2187C27.28.295E-6Trost2022 G
Yuen2017 G
Zhou2022 GE
SPTB     AU2328301chr14:
65222369-65222369
GCintronicDe novo--Trost2022 G
SPTB     SP0127515chr14:
65239605-65239605
TCexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.A5246G
c.A5246G
p.N1749S
p.N1749S
4.8751.691E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SPTB     Shi2013:2chr14:
65237675-65237675
AGexonicInheritednonsynonymous SNVNM_000347
NM_001024858
c.T5726C
c.T5726C
p.F1909S
p.F1909S
27.61.0E-4Shi2013 G
SPTB     SP0096205chr14:
65266487-65266487
GAexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.C1042T
c.C1042T
p.R348C
p.R348C
22.11.653E-5Fu2022 E
Trost2022 G
Zhou2022 GE
SPTB     Shi2013:1chr14:
65237675-65237675
AGexonicInheritednonsynonymous SNVNM_000347
NM_001024858
c.T5726C
c.T5726C
p.F1909S
p.F1909S
27.61.0E-4Shi2013 G
SPTB     AU3874303chr14:
65293348-65293348
TCintergenicDe novo--Trost2022 G
Yuen2017 G
SPTB     4-0062-003chr14:
65342195-65342197
CTCGAAintergenicDe novo--Trost2022 G
SPTB     SP0041020chr14:
65267627-65267627
GAintronicDe novo--Fu2022 E
SPTB     REACH000249chr14:
65325700-65325700
GCintergenicDe novo--Trost2022 G
SPTB     AU2793302chr14:
65336488-65336488
GAintergenicDe novo--Trost2022 G
SPTB     SP0147962chr14:
65220172-65220172
CTintronicDe novo--Fu2022 E
Trost2022 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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