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Results for "SNF8"

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
SNF8     iHART1153chr17:
47009032-47009032
CTexonicPaternalstopgainNM_001317193
NM_001317192
NM_007241
NM_001317194
c.G561A
c.G609A
c.G612A
c.G300A
p.W187X
p.W203X
p.W204X
p.W100X
35.0-Ruzzo2019 G
SNF8     mAGRE1153chr17:
47009032-47009032
CTexonicPaternalstopgainNM_001317193
NM_001317192
NM_007241
NM_001317194
c.G561A
c.G609A
c.G612A
c.G300A
p.W187X
p.W203X
p.W204X
p.W100X
35.0-Cirnigliaro2023 G
SNF8     Kim2020:B25chr17:
47014490-47014490
CTintronicDe novo--Kim2020 E
SNF8     SP0123274chr17:
47010721-47010721
ACintronicDe novo--Fu2022 E
Trost2022 G
SNF8     SP0057160chr17:
47018226-47018226
TGintronicDe novo--Fu2022 E
SNF8     SP0053576chr17:
47010609-47010609
ACexonicDe novosynonymous SNVNM_001317193
NM_001317192
NM_007241
NM_001317194
c.T471G
c.T522G
c.T522G
c.T210G
p.A157A
p.A174A
p.A174A
p.A70A
--Fu2022 E
SNF8     SP0081029chr17:
47022059-47022059
TCexonicnonsynonymous SNVNM_001317192
NM_001317193
NM_007241
c.A38G
c.A38G
c.A38G
p.K13R
p.K13R
p.K13R
18.0-Zhou2022 GE
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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