Variant Results

or

Results for "SP3"

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

SP3

2-0503-004

chr2:
174825205-174825205

A

G

intronic

De novo

-

Yuen2017 G

SP3

AU3906301

chr2:
174848372-174848372

G

A

intergenic

De novo

-

Yuen2017 G

SP3

AU4211304

chr2:
174896633-174896633

C

T

intergenic

De novo

-

Yuen2017 G

SP3

1-0715-003

chr2:
174899451-174899451

C

T

intergenic

De novo

-

Yuen2017 G

SP3

AU2711303

chr2:
174864292-174864292

G

A

intergenic

De novo

-

Yuen2017 G

SP3

2-1345-003

chr2:
174870207-174870207

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SP3

150974

chr2:
174828583-174828583

A

G

exonic

De novo

nonsynonymous SNV

NM_001172712
NM_003111

c.T176C
c.T185C

p.L59P
p.L62P

20.4

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SP3

14527.p1

chr2:
174820528-174820528

C

T

exonic

De novo

nonsynonymous SNV

NM_001017371
NM_001172712
NM_003111

c.G508A
c.G703A
c.G712A

p.G170R
p.G235R
p.G238R

16.47

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

SP3

1-0043-004

chr2:
174871839-174871839

A

G

intergenic

De novo

-

Yuen2017 G

SP3

Lim2017:36791

chr2:
174820528-174820528

C

T

exonic

De novo

nonsynonymous SNV

NM_001017371
NM_001172712
NM_003111

c.G508A
c.G703A
c.G712A

p.G170R
p.G235R
p.G238R

16.47

-

Lim2017 E

SP3

NDAR_INVEK534HR7_wes1

chr2:
174777809-174777809

C

T

exonic

De novo

nonsynonymous SNV

NM_001017371
NM_001172712
NM_003111

c.G1814A
c.G2009A
c.G2018A

p.R605K
p.R670K
p.R673K

16.93

-

Lim2017 E

SP3

5-0049-003

chr2:
174771620-174771620

G

T

UTR3

De novo

-

Trost2022 G

SP3

AU011604

chr2:
174837185-174837185

C

T

intergenic

De novo

-

Yuen2017 G

SP3

AU002903

chr2:
174839847-174839847

A

G

intergenic

De novo

-

Yuen2017 G

SP3

1-0257-003

chr2:
174793374-174793374

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SP3

36791

chr2:
174820528-174820528

C

T

exonic

De novo

nonsynonymous SNV

NM_001017371
NM_001172712
NM_003111

c.G508A
c.G703A
c.G712A

p.G170R
p.G235R
p.G238R

16.47

-

Fu2022 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
Curation notes	View
	More