Variant Results

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Results for "C2orf71"

Variant Events: 14

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

C2orf71

SSC00048

chr2:
29287926-29287926

C

CTCT

exonic

De novo

nonframeshift insertion

NM_001029883

c.3675_3676insAGA

p.E1226delinsRE

-

-

Fu2022 E
Trost2022 G

C2orf71

mAGRE4936

chr2:
29296180-29296181

AT

A

exonic

Maternal

frameshift deletion

NM_001029883

c.947delA

p.N316fs

-

Cirnigliaro2023 G

C2orf71

AU2299301

chr2:
29292684-29292684

A

T

intronic

De novo

-

-

Trost2022 G

C2orf71

AU3368302

chr2:
29288594-29288594

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

C2orf71

11509.p1

chr2:
29287926-29287926

C

CTCT

exonic

De novo

nonframeshift insertion

NM_001029883

c.3675_3676insAGA

p.E1226delinsRE

-

-

Satterstrom2020 E

C2orf71

SSC08056

chr2:
29295335-29295335

G

A

exonic

De novo

nonsynonymous SNV

NM_001029883

c.C1793T

p.S598L

10.8

-

Fu2022 E
Lim2017 E
Trost2022 G

C2orf71

1-0169-003

chr2:
29314655-29314655

C

T

intergenic

De novo

-

-

Yuen2017 G

C2orf71

2-1617-003

chr2:
29299872-29299872

G

A

intergenic

De novo

-

-

Yuen2017 G

C2orf71

mAGRE5390

chr2:
29293839-29293839

G

A

exonic

Paternal

stopgain

NM_001029883

c.C3289T

p.Q1097X

40.0

Cirnigliaro2023 G

C2orf71

REACH000073

chr2:
29296183-29296183

C

G

exonic

De novo

nonsynonymous SNV

NM_001029883

c.G945C

p.R315S

10.09

Trost2022 G
Zhou2022 GE

C2orf71

mAGRE5973

chr2:
29293639-29293639

C

T

exonic

Maternal

stopgain

NM_001029883

c.G3489A

p.W1163X

38.0

Cirnigliaro2023 G

C2orf71

13836.p1

chr2:
29295335-29295335

G

A

exonic

De novo

nonsynonymous SNV

NM_001029883

c.C1793T

p.S598L

10.8

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

C2orf71

SP0053359

chr2:
29296722-29296722

C

T

exonic

De novo

nonsynonymous SNV

NM_001029883

c.G406A

p.E136K

11.81

-

Fu2022 E
Trost2022 G
Zhou2022 GE

C2orf71

12932.p1

chr2:
29287794-29287794

C

T

exonic

nonsynonymous SNV

NM_001029883

c.G3808A

p.G1270S

8.017

Zhou2022 GE

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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