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Results for "TSPAN4"

Variant Events: 7

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
TSPAN4     SP0020473chr11:
865824-865824
CTexonicDe novononsynonymous SNVNM_001025238
NM_001025239
NM_001025234
NM_001025235
NM_001025236
NM_001025237
NM_003271
c.C563T
c.C371T
c.C563T
c.C563T
c.C563T
c.C563T
c.C563T
p.A188V
p.A124V
p.A188V
p.A188V
p.A188V
p.A188V
p.A188V
12.533.539E-5Feliciano2019 E
TSPAN4     1-0402-003chr11:
851069-851069
AGintronicDe novo--Yuen2017 G
TSPAN4     iHART2195chr11:
865611-865612
CGCexonicPaternalframeshift deletionNM_001025238
NM_001025239
NM_001025234
NM_001025235
NM_001025236
NM_001025237
NM_003271
c.430delG
c.238delG
c.430delG
c.430delG
c.430delG
c.430delG
c.430delG
p.D144fs
p.D80fs
p.D144fs
p.D144fs
p.D144fs
p.D144fs
p.D144fs
--Ruzzo2019 G
TSPAN4     iHART2193chr11:
865611-865612
CGCexonicPaternalframeshift deletionNM_001025238
NM_001025239
NM_001025234
NM_001025235
NM_001025236
NM_001025237
NM_003271
c.430delG
c.238delG
c.430delG
c.430delG
c.430delG
c.430delG
c.430delG
p.D144fs
p.D80fs
p.D144fs
p.D144fs
p.D144fs
p.D144fs
p.D144fs
--Ruzzo2019 G
TSPAN4     12925.p1chr11:
862614-862614
CTexonicDe novononsynonymous SNVNM_001025238
NM_001025234
NM_001025235
NM_001025236
NM_001025237
NM_003271
c.C128T
c.C128T
c.C128T
c.C128T
c.C128T
c.C128T
p.T43M
p.T43M
p.T43M
p.T43M
p.T43M
p.T43M
22.58.368E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
TSPAN4     11457.p1chr11:
866614-866615
ACAexonicDe novoframeshift deletionNM_001025238
NM_001025239
NM_001025234
NM_001025235
NM_001025236
NM_001025237
NM_003271
c.702delC
c.510delC
c.702delC
c.702delC
c.702delC
c.702delC
c.702delC
p.D234fs
p.D170fs
p.D234fs
p.D234fs
p.D234fs
p.D234fs
p.D234fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
TSPAN4     AU3725302chr11:
861430-861430
CTintronicDe novo--Yuen2017 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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