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Results for "SF1"

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
SF1     12673.p1chr11:
64532910-64532910
TCexonicDe novononsynonymous SNVNM_201997
NM_201995
c.A1667G
c.A1868G
p.Q556R
p.Q623R
13.82-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
SF1     Lim2017:35937chr11:
64536710-64536710
CTexonicMosaicnonsynonymous SNVNM_001178030
NM_001178031
NM_004630
NM_201995
NM_201997
NM_201998
c.G1139A
c.G686A
c.G764A
c.G764A
c.G764A
c.G764A
p.R380Q
p.R229Q
p.R255Q
p.R255Q
p.R255Q
p.R255Q
36.0-Lim2017 E
SF1     SSC05396chr11:
64532910-64532910
TCexonicDe novononsynonymous SNVNM_201997
NM_201995
c.A1667G
c.A1868G
p.Q556R
p.Q623R
13.82-Lim2017 E
SF1     11386.p1chr11:
64534557-64534557
GCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
SF1     3-0448-000chr11:
64543731-64543731
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SF1     13071.p1chr11:
64536710-64536710
CTexonicMosaic, De novononsynonymous SNVNM_001178030
NM_001178031
NM_004630
NM_201995
NM_201997
NM_201998
c.G1139A
c.G686A
c.G764A
c.G764A
c.G764A
c.G764A
p.R380Q
p.R229Q
p.R255Q
p.R255Q
p.R255Q
p.R255Q
36.0-Ji2016 E
Krupp2017 E
SF1     2-1722-003chr11:
64546078-64546078
GTUTR5De novo--Yuen2017 G
SF1     2-1722-003chr11:
64550319-64550319
GAintergenicDe 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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