Variant Results

or

Results for "SPNS3"

Variant Events: 11

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

SPNS3

SSC04433

chr17:
4389753-4389753

G

A

exonic

De novo

nonsynonymous SNV

NM_182538

c.G1325A

p.R442H

10.24

1.678E-5

Fu2022 E
Lim2017 E
Trost2022 G

SPNS3

7-0223-003

chr17:
4385427-4385427

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SPNS3

Cukier2014:37150

chr17:
4349389-4349389

C

T

exonic

Unknown

nonsynonymous SNV

NM_182538

c.C449T

p.S150L

10.52

2.0E-4

Cukier2014 E

SPNS3

12355.p1

chr17:
4389753-4389753

G

A

exonic

De novo

nonsynonymous SNV

NM_182538

c.G1325A

p.R442H

10.24

1.678E-5

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

SPNS3

Cukier2014:7658

chr17:
4391185-4391185

C

G

exonic

Unknown

nonsynonymous SNV

NM_182538

c.C1535G

p.P512R

14.77

0.0117

Cukier2014 E

SPNS3

SP0068557

chr17:
4352627-4352627

G

A

exonic

De novo

nonsynonymous SNV

NM_182538

c.G868A

p.V290M

11.02

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SPNS3

AU4013301

chr17:
4360191-4360191

G

A

intronic

De novo

-

Yuen2017 G

SPNS3

7-0449-003

chr17:
4345212-4345212

A

T

intronic

De novo

-

Trost2022 G

SPNS3

1-0844-004

chr17:
4385224-4385224

G

GC

intronic

De novo

-

Trost2022 G

SPNS3

MSSNG00224-003

chr17:
4353572-4353575

TCTC

T

intronic

De novo

-

Trost2022 G

SPNS3

MSSNG00208-003

chr17:
4368630-4368630

C

G

intronic

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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