Variant Results

or

or

Results for "SSPO"

Variant Events: 22

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

SSPO

11497.p1

chr7:
149519648-149519648

C

T

exonic

De novo

nonsynonymous SNV

NM_198455

c.C13138T

p.R4380W

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G

SSPO

2-1440-003

chr7:
149507507-149507507

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

SSPO

AU4089302

chr7:
149529856-149529856

G

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SSPO

14420.p1

chr7:
149522912-149522912

C

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_198455

c.C14131G

p.L4711V

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Trost2022 G

SSPO

AU4089301

chr7:
149529856-149529856

G

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SSPO

8C365

chr7:
149498999-149498999

A

T

exonic

De novo

nonsynonymous SNV

NM_198455

c.A7451T

p.D2484V

-

-

Satterstrom2020 E
Trost2022 G

SSPO

2-1169-004

chr7:
149506638-149506638

C

A

intronic

De novo

-

-

Yuen2017 G

SSPO

2-0198-003

chr7:
149488100-149488100

T

A

intronic

De novo

-

-

Yuen2017 G

SSPO

G01-GEA-59-HI

chr7:
149522448-149522448

G

A

exonic

De novo

nonsynonymous SNV

NM_198455

c.G14075A

p.R4692H

-

Satterstrom2020 E
Trost2022 G

SSPO

2-0198-005

chr7:
149488100-149488100

T

A

intronic

De novo

-

-

Yuen2017 G

SSPO

12558.p1

chr7:
149503920-149503920

A

G

splicing

De novo

splicing

-

-

Ji2016 E
Krumm2015 E

SSPO

7-0215-003

chr7:
149482406-149482406

G

T

intronic

De novo

-

-

Yuen2017 G

SSPO

iHART1191

chr7:
149490709-149490709

G

A

splicing

Paternal

splicing

-

Ruzzo2019 G

SSPO

SSC01991

chr7:
149519648-149519648

C

T

exonic

De novo

nonsynonymous SNV

NM_198455

c.C13138T

p.R4380W

-

Trost2022 G

SSPO

iHART3207

chr7:
149483313-149483313

T

C

splicing

Maternal

splicing

-

Ruzzo2019 G

SSPO

mAGRE1191

chr7:
149490709-149490709

G

A

splicing

Paternal

splicing

-

Cirnigliaro2023 G

SSPO

mAGRE3207

chr7:
149483313-149483313

T

C

splicing

Maternal

splicing

-

Cirnigliaro2023 G

SSPO

DEASD_0277_001

chr7:
149477097-149477097

G

A

exonic

De novo

nonsynonymous SNV

NM_198455

c.G1274A

p.G425E

-

-

Kosmicki2017 E

SSPO

2-1577-003

chr7:
149525373-149525373

G

A

intronic

De novo

-

-

Yuen2017 G

SSPO

111313

chr7:
149511650-149511650

G

T

exonic

nonsynonymous SNV

NM_198455

c.G10310T

p.C3437F

-

-

Woodbury-Smith2022 E

SSPO

NDAR_INVVT483LX0_wes1

chr7:
149477948-149477948

C

T

exonic

De novo

synonymous SNV

NM_198455

c.C1719T

p.L573L

-

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

SSPO

08C79054

chr7:
149496954-149496954

G

A

exonic

De novo

nonsynonymous SNV

NM_198455

c.G6994A

p.G2332R

-

Kosmicki2017 E
Satterstrom2020 E
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
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