or
or
Exact

Results for "SPTBN4"

Variant Events: 17

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
SPTBN4     PN400407chr19:
41062193-41062193
CTexonicUnknownnonsynonymous SNVNM_025213
NM_020971
c.C1316T
c.C5288T
p.S439L
p.S1763L
18.438.641E-6Leblond2019 E
SPTBN4     2-1644-004chr19:
41034385-41034385
CTintronicDe novo--Yuen2017 G
SPTBN4     AU4356302chr19:
41020921-41020921
ACintronicDe novo--Yuen2017 G
SPTBN4     11938.p1chr19:
40998989-40998989
ATintronicDe novo--Satterstrom2020 E
SPTBN4     1-0556-003chr19:
41056146-41056146
AGexonicDe novosynonymous SNVNM_025213
NM_020971
c.A615G
c.A4587G
p.A205A
p.A1529A
--Yuen2017 G
SPTBN4     AU2427303chr19:
41041605-41041605
GAintronicDe novo--Yuen2017 G
SPTBN4     AU3918302chr19:
41053810-41053810
TCintronicDe novo--Yuen2017 G
SPTBN4     2-0300-004chr19:
41056436-41056436
CTintronicDe novo--Yuen2017 G
SPTBN4     SP0003228chr19:
41060209-41060209
GAexonicDe novononsynonymous SNVNM_025213
NM_020971
c.G859A
c.G4831A
p.E287K
p.E1611K
11.71-Feliciano2019 E
SPTBN4     2-0003-004chr19:
41003342-41003342
GCintronicDe novo--Yuen2017 G
SPTBN4     AU2109302chr19:
40983973-40983973
CAintronicDe novo--Yuen2017 G
SPTBN4     PN400431chr19:
41072195-41072195
GAexonicUnknownnonsynonymous SNVNM_020971c.G6266Ap.R2089Q25.1-Leblond2019 E
SPTBN4     AU076508chr19:
41066106-41066106
GAexonicDe novosynonymous SNVNM_025213
NM_020971
c.G1740A
c.G5712A
p.V580V
p.V1904V
--Yuen2017 G
SPTBN4     08C75107chr19:
41029512-41029512
CTexonicDe novostopgainNM_020971c.C3823Tp.Q1275X40.0-Satterstrom2020 E
SPTBN4     AU3912302chr19:
41064211-41064211
CTintronicDe novo--Yuen2017 G
SPTBN4     AU094Achr19:
41012241-41012241
CTexonicMosaicsynonymous SNVNM_020971c.C1764Tp.S588S-8.279E-6Lim2017 E
SPTBN4     iHART2367chr19:
41018582-41018582
TCexonicDe novononsynonymous SNVNM_020971c.T1886Cp.L629P18.18-Ruzzo2019 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