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Results for "SFXN1"

Variant Events: 12

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
SFXN1     F10405-1chr5:
174940535-174940535
GAexonicDe novosynonymous SNVNM_022754c.G666Ap.A222A-4.119E-5Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SFXN1     111304chr5:
174940533-174940533
GAexonicnonsynonymous SNVNM_022754c.G664Ap.A222T20.3-Woodbury-Smith2022 E
SFXN1     SP0081485chr5:
174937164-174937164
GAexonicDe novononsynonymous SNVNM_022754c.G388Ap.V130I4.5416.0E-4Trost2022 G
Zhou2022 GE
SFXN1     SP0016641chr5:
174943596-174943596
TCintronicDe novo--Fu2022 E
SFXN1     3-0534-000chr5:
174918428-174918428
GGAintronicDe novo--Trost2022 G
SFXN1     4-0111-003chr5:
174954410-174954410
TCUTR3De novo--Trost2022 G
SFXN1     2-1182-003chr5:
174987670-174987670
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
SFXN1     AU3053301chr5:
175061553-175061553
CTintergenicDe novo--Yuen2017 G
SFXN1     5-0009-003chr5:
174905735-174905735
CGintronicDe novo--Trost2022 G
SFXN1     1-0196-005chr5:
175020659-175020659
CAintergenicDe novo--Yuen2017 G
SFXN1     5-0033-004chr5:
175073604-175073604
CGintergenicDe novo--Yuen2017 G
SFXN1     1-0024-003chr5:
174906792-174906792
CTintronicDe novo--Yuen2016 G
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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