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Results for "SPTB"

Variant Events: 11

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     08C79630chr14:
65249067-65249067
GAexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.C4207T
c.C4207T
p.R1403W
p.R1403W
24.14.12E-5Satterstrom2020 E
SPTB     AU218Achr14:
65253441-65253441
TCexonicDe novononsynonymous SNVNM_000347
NM_001024858
c.A3242G
c.A3242G
p.Q1081R
p.Q1081R
16.34-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
SPTB     2-1336-004chr14:
65220298-65220298
GAexonicDe novononsynonymous SNVNM_001024858c.C6559Tp.R2187C27.28.295E-6Yuen2017 G
SPTB     Shi2013:2chr14:
65237675-65237675
AGexonicInheritednonsynonymous SNVNM_000347
NM_001024858
c.T5726C
c.T5726C
p.F1909S
p.F1909S
27.61.0E-4Shi2013 G
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--Yuen2017 G
SPTB     1-0339-004chr14:
65320636-65320636
GAintergenicDe novo--Yuen2017 G
SPTB     PN400323chr14:
65237717-65237717
CAexonicUnknownnonsynonymous SNVNM_000347
NM_001024858
c.G5684T
c.G5684T
p.R1895L
p.R1895L
29.5-Leblond2019 E
SPTB     PN400246chr14:
65271803-65271803
GAexonicUnknownnonsynonymous SNVNM_000347
NM_001024858
c.C154T
c.C154T
p.R52W
p.R52W
22.5-Leblond2019 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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