or
or
Exact

Results for "CD151"

Variant Events: 9

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
CD151     13528_p1chr11:
838045-838045
GCintronicDe novo--Fu2022 E
CD151     iHART3273chr11:
838189-838189
CAexonicMaternalstopgainNM_001039490
NM_139030
NM_004357
NM_139029
c.C759A
c.C759A
c.C759A
c.C759A
p.Y253X
p.Y253X
p.Y253X
p.Y253X
36.0-Ruzzo2019 G
CD151     13376.p1chr11:
836366-836366
CTexonicDe novononsynonymous SNVNM_001039490
NM_139030
NM_004357
NM_139029
c.C200T
c.C200T
c.C200T
c.C200T
p.A67V
p.A67V
p.A67V
p.A67V
16.638.559E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
CD151     13739.p1chr11:
837476-837476
GCexonicDe novononsynonymous SNVNM_001039490
NM_139030
NM_004357
NM_139029
c.G473C
c.G473C
c.G473C
c.G473C
p.S158T
p.S158T
p.S158T
p.S158T
24.7-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
CD151     SP0130318chr11:
836758-836758
GGCintronicDe novo-0.0022Trost2022 G
CD151     SSC08664chr11:
837476-837476
GCexonicDe novononsynonymous SNVNM_001039490
NM_139030
NM_004357
NM_139029
c.G473C
c.G473C
c.G473C
c.G473C
p.S158T
p.S158T
p.S158T
p.S158T
24.7-Fu2022 E
Lim2017 E
Trost2022 G
CD151     13528.p1chr11:
838045-838045
GCintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
CD151     13376_p1chr11:
836366-836366
CTexonicDe novononsynonymous SNVNM_001039490
NM_139030
NM_004357
NM_139029
c.C200T
c.C200T
c.C200T
c.C200T
p.A67V
p.A67V
p.A67V
p.A67V
16.638.559E-6Fu2022 E
CD151     AU4056302chr11:
838189-838189
CAexonicMaternalstopgainNM_001039490
NM_139030
NM_004357
NM_139029
c.C759A
c.C759A
c.C759A
c.C759A
p.Y253X
p.Y253X
p.Y253X
p.Y253X
36.0-Cirnigliaro2023 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