Variant Results

or

Results for "SP110"

Variant Events: 25

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

SP110

4-0062-003

chr2:
231080743-231080744

GC

AT

intronic

De novo

-

Trost2022 G

SP110

4-0111-003

chr2:
231086200-231086200

C

T

intronic

De novo

-

Trost2022 G

SP110

5-0077-003

chr2:
231055686-231055686

T

A

intronic

De novo

-

Trost2022 G

SP110

4-0073-003

chr2:
231064500-231064501

AA

TT

intronic

De novo

-

Trost2022 G

SP110

5-0077-003

chr2:
231055681-231055681

C

A

intronic

De novo

-

Trost2022 G

SP110

1-0862-003

chr2:
231055686-231055686

T

A

intronic

De novo

-

Trost2022 G

SP110

14037.p1

chr2:
231035373-231035373

C

T

exonic

De novo

nonsynonymous SNV

NM_004509
NM_080424

c.G1920A
c.G1992A

p.M640I
p.M664I

9.184

-

Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

SP110

08C76741

chr2:
231033967-231033967

A

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

SP110

mAGRE2373

chr2:
231042973-231042973

T

G

splicing

Maternal

splicing

5.352

-

Cirnigliaro2023 G

SP110

iHART2253

chr2:
231037606-231037606

G

A

exonic

Maternal

stopgain

NM_004509
NM_080424

c.C1660T
c.C1660T

p.R554X
p.R554X

22.2

4.945E-5

Ruzzo2019 G

SP110

mAGRE2370

chr2:
231042973-231042973

T

G

splicing

Maternal

splicing

5.352

-

Cirnigliaro2023 G

SP110

mAGRE2253

chr2:
231037606-231037606

G

A

exonic

Maternal

stopgain

NM_004509
NM_080424

c.C1660T
c.C1660T

p.R554X
p.R554X

22.2

4.945E-5

Cirnigliaro2023 G

SP110

AU2433302

chr2:
231037606-231037606

G

A

exonic

Maternal

stopgain

NM_004509
NM_080424

c.C1660T
c.C1660T

p.R554X
p.R554X

22.2

4.945E-5

Cirnigliaro2023 G

SP110

SSC10053

chr2:
231035373-231035373

C

T

exonic

De novo

nonsynonymous SNV

NM_004509
NM_080424

c.G1920A
c.G1992A

p.M640I
p.M664I

9.184

-

Fu2022 E
Lim2017 E
Trost2022 G

SP110

iHART2370

chr2:
231042973-231042973

T

G

splicing

Maternal

splicing

5.352

-

Ruzzo2019 G

SP110

iHART2373

chr2:
231042973-231042973

T

G

splicing

Maternal

splicing

5.352

-

Ruzzo2019 G

SP110

NDAR_INVFT531WG7_wes1

chr2:
231074661-231074661

G

A

exonic

De novo

nonsynonymous SNV

NM_004509
NM_004510
NM_080424
NM_001185015

c.C814T
c.C814T
c.C814T
c.C832T

p.P272S
p.P272S
p.P272S
p.P278S

1.903

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SP110

SP0030682

chr2:
231081568-231081568

A

G

exonic

De novo

synonymous SNV

NM_004509
NM_004510
NM_080424
NM_001185015

c.T75C
c.T75C
c.T75C
c.T93C

p.Y25Y
p.Y25Y
p.Y25Y
p.Y31Y

-

2.0E-4

Fu2022 E
Trost2022 G
Zhou2022 GE

SP110

SP0117782

chr2:
231033890-231033890

C

T

exonic

De novo

nonsynonymous SNV

NM_004509
NM_080424

c.G2020A
c.G2092A

p.V674M
p.V698M

7.766

8.24E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

SP110

5-0077-003

chr2:
231055537-231055538

TG

CC

intronic

De novo

-

Trost2022 G

SP110

1-0862-003

chr2:
231055681-231055681

C

A

intronic

De novo

-

Trost2022 G

SP110

1-0226-005

chr2:
231054639-231054639

A

T

intronic

De novo

-

Trost2022 G

SP110

5-0077-003

chr2:
231055525-231055525

G

A

intronic

De novo

-

Trost2022 G

SP110

1-0226-005

chr2:
231054622-231054622

A

G

intronic

De novo

-

Trost2022 G

SP110

1-0226-005

chr2:
231054632-231054632

A

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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