Variant Results

or

Results for "CPS1"

Variant Events: 51

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

CPS1

2-1422-003

chr2:
212154506-212154506

G

A

intergenic

De novo

-

Yuen2017 G

CPS1

AU005214

chr2:
211607711-211607711

A

G

intergenic

De novo

-

Yuen2017 G

CPS1

2-1348-003

chr2:
212029437-212029446

GGAGAGAGAG

GGAGAGAGAGAG

intergenic

De novo

-

Yuen2017 G

CPS1

1-0969-003

chr2:
211924503-211924503

C

T

intergenic

De novo

-

Yuen2017 G

CPS1

1-0498-003

chr2:
211494187-211494187

T

C

intronic

De novo

-

Yuen2017 G

CPS1

2-1389-003

chr2:
212121878-212121878

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CPS1

AU3858303

chr2:
211408059-211408060

CT

CTT

intronic

De novo

-

Yuen2017 G

CPS1

AU071804

chr2:
211807526-211807526

G

A

intergenic

De novo

-

Yuen2017 G

CPS1

2-1417-003

chr2:
211728143-211728143

C

T

intergenic

De novo

-

Yuen2017 G

CPS1

AU065304

chr2:
211342892-211342892

C

T

intronic

De novo

-

Yuen2017 G

CPS1

AU3175302

chr2:
211811001-211811001

C

T

intergenic

De novo

-

Yuen2017 G

CPS1

AU3903302

chr2:
211375049-211375049

A

G

intronic

De novo

-

Yuen2017 G

CPS1

AU3808304

chr2:
211852082-211852082

A

G

intergenic

De novo

-

Yuen2017 G

CPS1

NDAR_INVUH366DLU_wes1

chr2:
211466977-211466977

C

T

exonic

De novo

nonsynonymous SNV

NM_001122634
NM_001875
NM_001122633

c.C406T
c.C1759T
c.C1777T

p.R136C
p.R587C
p.R593C

23.8

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

CPS1

2-0016-003

chr2:
212168309-212168309

T

C

intergenic

De novo

-

Yuen2017 G

CPS1

AU3984302

chr2:
212024523-212024523

T

A

intergenic

De novo

-

Yuen2017 G

CPS1

1-0233-004

chr2:
211690460-211690474

GTCAAACATTTTCCA

G

intergenic

De novo

-

Yuen2017 G

CPS1

AU047703

chr2:
212196355-212196355

G

A

intergenic

De novo

-

Yuen2017 G

CPS1

1-0203-004

chr2:
211683906-211683909

CTTT

C

intergenic

De novo

-

Yuen2017 G

CPS1

1-0347-003

chr2:
211425037-211425037

G

A

intronic

De novo

-

Yuen2017 G

CPS1

2-1131-003

chr2:
211545980-211545980

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CPS1

2-1505-004

chr2:
212008493-212008493

G

A

intergenic

De novo

-

Yuen2017 G

CPS1

2-0006-004

chr2:
211988950-211988950

C

CATGTAAAGTA

intergenic

De novo

-

Yuen2017 G

CPS1

SP0078543

chr2:
211458425-211458425

T

TGCAGAAAGAAAGC

intronic

De novo

-

Fu2022 E

CPS1

SP0071614

chr2:
211476964-211476964

C

T

exonic

De novo

nonsynonymous SNV

NM_001122634
NM_001875
NM_001122633

c.C1162T
c.C2515T
c.C2533T

p.L388F
p.L839F
p.L845F

13.44

8.254E-6

Fu2022 E

CPS1

SP0150006

chr2:
211512542-211512542

T

C

intronic

De novo

-

Fu2022 E

CPS1

AU3190305

chr2:
212192985-212192985

A

G

intergenic

De novo

-

Yuen2017 G

CPS1

1-0699-003

chr2:
211850855-211850855

G

T

intergenic

De novo

-

Yuen2017 G

CPS1

1-0380-003

chr2:
211539061-211539061

G

A

intronic

De novo

-

Yuen2017 G

CPS1

1-0051-005

chr2:
211641398-211641398

G

A

intergenic

De novo

-

Yuen2017 G

CPS1

AU3779304

chr2:
212080032-212080032

C

G

intergenic

De novo

-

Yuen2017 G

CPS1

1-0534-003

chr2:
211826090-211826090

G

T

intergenic

De novo

-

Yuen2017 G

CPS1

2-0122-003

chr2:
212231117-212231117

G

A

intergenic

De novo

-

Yuen2017 G

CPS1

2-0300-004

chr2:
212135566-212135567

CA

C

intergenic

De novo

-

Yuen2017 G

CPS1

2-0300-004

chr2:
211719269-211719269

A

C

intergenic

De novo

-

Yuen2017 G

CPS1

1-0972-003

chr2:
211744054-211744054

G

A

intergenic

De novo

-

Yuen2017 G

CPS1

AU3913302

chr2:
211572790-211572790

G

C

intergenic

De novo

-

Yuen2017 G

CPS1

1-0197-003

chr2:
211836979-211836979

A

G

intergenic

De novo

-

Yuen2017 G

CPS1

AU3811301

chr2:
211648924-211648924

C

T

intergenic

De novo

-

Yuen2017 G

CPS1

5-0137-003

chr2:
212077206-212077206

T

TCGTCG

intergenic

De novo

-

Yuen2017 G

CPS1

SP0034120

chr2:
211460155-211460155

G

T

intronic

De novo

-

Fu2022 E

CPS1

2-0036-003

chr2:
212168309-212168309

T

C

intergenic

De novo

-

Yuen2016 G

CPS1

2-0006-003

chr2:
211988950-211988950

C

CATGTAAAGTA

intergenic

De novo

-

Yuen2017 G

CPS1

2-1605-003

chr2:
212092994-212092994

C

T

intergenic

De novo

-

Yuen2017 G

CPS1

1-0274-003

chr2:
211988950-211988950

C

CATGTAAAGTA

intergenic

De novo

-

Yuen2017 G

CPS1

1-0206-003

chr2:
212234211-212234211

C

T

intergenic

De novo

-

Yuen2017 G

CPS1

63-449

chr2:
211700047-211700047

T

C

intergenic

De novo

-

Michaelson2012 G

CPS1

1-0358-003

chr2:
211371196-211371204

GCGCCTCTT

G

intronic

De novo

-

Yuen2017 G

CPS1

1-0201-004

chr2:
211404186-211404186

G

A

intronic

De novo

-

Yuen2017 G

CPS1

AU3809302

chr2:
211401868-211401868

A

G

intronic

De novo

-

Yuen2017 G

CPS1

09C83070

chr2:
211438019-211438019

C

T

intronic

De novo

-

Fu2022 E
Kosmicki2017 E
Satterstrom2020 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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