Variant Results

or

Results for "C2orf42"

Variant Events: 11

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

C2orf42

3-0146-000

chr2:
70383909-70383909

G

A

intronic

De novo

-

Trost2022 G

C2orf42

iHART2291

chr2:
70396794-70396794

C

T

splicing

Maternal

splicing

19.32

-

Ruzzo2019 G

C2orf42

12457.p1

chr2:
70377544-70377544

G

A

exonic

De novo

nonsynonymous SNV

NM_017880

c.C1669T

p.P557S

12.86

8.256E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

C2orf42

mAGRE2291

chr2:
70396794-70396794

C

T

splicing

Maternal

splicing

19.32

-

Cirnigliaro2023 G

C2orf42

11797.p1

chr2:
70392261-70392261

T

C

exonic

De novo

nonsynonymous SNV

NM_017880

c.A1316G

p.N439S

12.73

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Zhou2022 GE

C2orf42

2-1741-003

chr2:
70426110-70426110

C

T

intergenic

De novo

-

Yuen2017 G

C2orf42

DEASD_0166_001

chr2:
70408266-70408266

G

A

intronic

De novo

-

3.772E-5

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

C2orf42

2-1696-003

chr2:
70430235-70430235

G

T

intergenic

De novo

-

Yuen2017 G

C2orf42

SSC03349

chr2:
70392261-70392261

T

C

exonic

De novo

nonsynonymous SNV

NM_017880

c.A1316G

p.N439S

12.73

-

Fu2022 E
Lim2017 E
Trost2022 G

C2orf42

SSC05321

chr2:
70377544-70377544

G

A

exonic

De novo

nonsynonymous SNV

NM_017880

c.C1669T

p.P557S

12.86

8.256E-6

Fu2022 E
Lim2017 E
Trost2022 G

C2orf42

SJD_58.3

chr2:
70393019-70393019

T

A

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
	More