Variant Results

or

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

111304

chr5:
174940533-174940533

G

A

exonic

nonsynonymous SNV

NM_022754

c.G664A

p.A222T

20.3

-

Woodbury-Smith2022 E

SFXN1

SP0081485

chr5:
174937164-174937164

G

A

exonic

De novo

nonsynonymous SNV

NM_022754

c.G388A

p.V130I

4.541

6.0E-4

Trost2022 G
Zhou2022 GE

SFXN1

SP0016641

chr5:
174943596-174943596

T

C

intronic

De novo

-

Fu2022 E

SFXN1

2-1182-003

chr5:
174987670-174987670

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SFXN1

AU3053301

chr5:
175061553-175061553

C

T

intergenic

De novo

-

Yuen2017 G

SFXN1

5-0009-003

chr5:
174905735-174905735

C

G

intronic

De novo

-

Trost2022 G

SFXN1

1-0196-005

chr5:
175020659-175020659

C

A

intergenic

De novo

-

Yuen2017 G

SFXN1

5-0033-004

chr5:
175073604-175073604

C

G

intergenic

De novo

-

Yuen2017 G

SFXN1

1-0024-003

chr5:
174906792-174906792

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SFXN1

F10405-1

chr5:
174940535-174940535

G

A

exonic

De novo

synonymous SNV

NM_022754

c.G666A

p.A222A

-

4.119E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SFXN1

3-0534-000

chr5:
174918428-174918428

G

GA

intronic

De novo

-

Trost2022 G

SFXN1

4-0111-003

chr5:
174954410-174954410

T

C

UTR3

De novo

-

Trost2022 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 notes	View
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