Variant Results

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or

Results for "NRDE2"

Variant Events: 18

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

NRDE2

2-1132-003

chr14:
90791166-90791166

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NRDE2

111313

chr14:
90769345-90769345

T

C

exonic

nonsynonymous SNV

NM_017970

c.A1130G

p.N377S

26.9

Woodbury-Smith2022 E

NRDE2

2-1508-003

chr14:
90848596-90848596

C

A

intergenic

De novo

-

-

Yuen2017 G

NRDE2

1-0158-003

chr14:
90824227-90824227

T

G

intergenic

De novo

-

-

Yuen2017 G

NRDE2

iHART2788

chr14:
90769212-90769212

G

C

exonic

Maternal

stopgain

NM_017970

c.C1263G

p.Y421X

40.0

-

Ruzzo2019 G

NRDE2

SSC04588

chr14:
90756969-90756969

T

A

intronic

De novo

-

Trost2022 G

NRDE2

AU2022302

chr14:
90772945-90772945

G

A

intronic

De novo

-

-

Trost2022 G

NRDE2

MSSNG00003-004

chr14:
90746015-90746015

G

C

intronic

De novo

-

-

Trost2022 G

NRDE2

MSSNG00003-004

chr14:
90747191-90747191

G

C

intronic

De novo

-

-

Trost2022 G

NRDE2

mAGRE2788

chr14:
90769212-90769212

G

C

exonic

Maternal

stopgain

NM_017970

c.C1263G

p.Y421X

40.0

-

Cirnigliaro2023 G

NRDE2

Cukier2014:37024

chr14:
90756862-90756862

C

G

exonic

Unknown

nonsynonymous SNV

NM_017970

c.G1932C

p.L644F

16.35

Cukier2014 E

NRDE2

2-1170-003

chr14:
90765389-90765395

TTTTTTA

T

intronic

De novo

-

-

Yuen2017 G

NRDE2

1-0534-003

chr14:
90827891-90827891

G

A

intergenic

De novo

-

-

Yuen2017 G

NRDE2

AU009904

chr14:
90842437-90842437

C

T

intergenic

De novo

-

-

Yuen2017 G

NRDE2

AU075803

chr14:
90806859-90806859

C

T

intergenic

De novo

-

-

Yuen2017 G

NRDE2

AU1860302

chr14:
90756748-90756749

AG

A

exonic

Maternal

frameshift deletion

NM_017970

c.2045delC

p.P682fs

-

-

Cirnigliaro2023 G

NRDE2

AU1860301

chr14:
90756748-90756749

AG

A

exonic

Maternal

frameshift deletion

NM_017970

c.2045delC

p.P682fs

-

-

Cirnigliaro2023 G

NRDE2

12327.p1

chr14:
90756969-90756969

T

A

intronic

De novo

-

Satterstrom2020 E

Source Variant Information

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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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