Variant Results

or

or

Results for "SSPN"

Variant Events: 16

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

SSPN

1-0533-003

chr12:
26484206-26484206

T

A

intergenic

De novo

-

-

Yuen2017 G

SSPN

1-0820-003

chr12:
26425792-26425792

C

T

intergenic

De novo

-

-

Yuen2017 G

SSPN

AU3605303

chr12:
26381437-26381437

G

A

intronic

De novo

-

-

Yuen2017 G

SSPN

2-0003-003

chr12:
26379271-26379271

C

T

intronic

De novo

-

-

Yuen2017 G

SSPN

JASD_Fam0218

chr12:
26377307-26377307

A

G

exonic

De novo

nonsynonymous SNV

NM_001135823
NM_005086

c.A52G
c.A361G

p.M18V
p.M121V

10.03

Takata2018 E

SSPN

1-0570-003

chr12:
26441686-26441686

C

T

intergenic

De novo

-

-

Yuen2017 G

SSPN

5-0017-003

chr12:
26430914-26430914

G

A

intergenic

De novo

-

-

Yuen2017 G

SSPN

1-0481-003

chr12:
26402668-26402671

AGAG

A

intergenic

De novo

-

-

Yuen2017 G

SSPN

1-0184-003

chr12:
26454395-26454411

TTTATTATTATTATTAT

TTTATTATTATTAT

intergenic

De novo

-

-

Yuen2017 G

SSPN

AU3713302

chr12:
26450530-26450530

G

T

intergenic

De novo

-

-

Yuen2017 G

SSPN

iHART3013

chr12:
26383642-26383642

A

G

splicing

Maternal

splicing

19.78

-

Ruzzo2019 G

SSPN

2-0270-004

chr12:
26359847-26359847

C

G

intronic

De novo

-

-

Yuen2017 G

SSPN

1-0155-003

chr12:
26348429-26348429

C

T

UTR5

De novo

-

-

Yuen2017 G

SSPN

SP0013677

chr12:
26377335-26377335

C

A

intronic

De novo

-

-

Fu2022 E

SSPN

iHART3011

chr12:
26383642-26383642

A

G

splicing

Maternal

splicing

19.78

-

Ruzzo2019 G

SSPN

SP0070866

chr12:
26348575-26348575

C

CTGGG

UTR5

De novo

-

-

Fu2022 E

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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