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Results for "SNX5"

Variant Events: 8

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
SNX5     M27821chr20:
17937682-17937682
CAsplicingMaternalsplicing22.4-Guo2018 T
Wang2016 T
SNX5     A6chr20:
17930800-17930800
AGexonicDe novononsynonymous SNVNM_001282454
NM_014426
NM_152227
c.T452C
c.T767C
c.T767C
p.L151S
p.L256S
p.L256S
9.515-Wu2018 G
SNX5     SSC05156chr20:
17928186-17928186
GAexonicMosaicnonsynonymous SNVNM_001282454
NM_014426
NM_152227
c.C707T
c.C1022T
c.C1022T
p.A236V
p.A341V
p.A341V
14.59-Lim2017 E
SNX5     AU4060306chr20:
17934218-17934218
TCintronicDe novo--Yuen2017 G
SNX5     12961_p1chr20:
17934865-17934865
CGintronicDe novo--Fu2022 E
SNX5     2-1352-003chr20:
17923824-17923824
TCexonicDe novononsynonymous SNVNM_001282454
NM_014426
NM_152227
c.A779G
c.A1094G
c.A1094G
p.K260R
p.K365R
p.K365R
16.89-Jiang2013 G
Yuen2016 G
Yuen2017 G
SNX5     10C105010chr20:
17923824-17923824
TCexonicDe novononsynonymous SNVNM_001282454
NM_014426
NM_152227
c.A779G
c.A1094G
c.A1094G
p.K260R
p.K365R
p.K365R
16.89-Fu2022 E
Satterstrom2020 E
SNX5     12563.p1chr20:
17928186-17928186
GAexonicDe novo, Mosaicnonsynonymous SNVNM_001282454
NM_014426
NM_152227
c.C707T
c.C1022T
c.C1022T
p.A236V
p.A341V
p.A341V
14.59-Dou2017 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 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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