Variant Results

or

Results for "NRAP"

Variant Events: 21

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

NRAP

SP0010799

chr10:
115402708-115402708

T

G

exonic

De novo

synonymous SNV

NM_001261463
NM_198060

c.A1200C
c.A1200C

p.S400S
p.S400S

-

Fu2022 E

NRAP

G01-GEA-203-HI

chr10:
115383310-115383310

G

A

exonic

De novo

nonsynonymous SNV

NM_006175
NM_001261463
NM_198060

c.C2330T
c.C2435T
c.C2435T

p.A777V
p.A812V
p.A812V

20.9

-

Fu2022 E
Satterstrom2020 E

NRAP

SP0014263

chr10:
115392927-115392927

A

C

exonic

De novo

stopgain

NM_006175
NM_001261463
NM_198060

c.T1443G
c.T1548G
c.T1548G

p.Y481X
p.Y516X
p.Y516X

39.0

-

Fu2022 E

NRAP

AU4032307

chr10:
115373798-115373798

G

C

intronic

De novo

-

Yuen2017 G

NRAP

SP0061121

chr10:
115405619-115405619

T

G

exonic

De novo

nonsynonymous SNV

NM_001261463
NM_006175
NM_198060

c.A1075C
c.A1075C
c.A1075C

p.K359Q
p.K359Q
p.K359Q

14.05

-

Fu2022 E

NRAP

SP0032493

chr10:
115401200-115401200

A

C

exonic

De novo

nonsynonymous SNV

NM_006175
NM_001261463
NM_198060

c.T1142G
c.T1247G
c.T1247G

p.M381R
p.M416R
p.M416R

20.9

-

Fu2022 E

NRAP

36886

chr10:
115406755-115406755

C

T

exonic

De novo

nonsynonymous SNV

NM_001261463
NM_006175
NM_198060

c.G920A
c.G920A
c.G920A

p.G307E
p.G307E
p.G307E

27.4

-

Fu2022 E

NRAP

11C119383

chr10:
115350477-115350477

G

A

exonic

De novo

stopgain

NM_006175
NM_001261463
NM_198060

c.C4711T
c.C4816T
c.C4816T

p.Q1571X
p.Q1606X
p.Q1606X

44.0

-

Fu2022 E

NRAP

14563.p1

chr10:
115406755-115406755

C

T

exonic

De novo

nonsynonymous SNV

NM_001261463
NM_006175
NM_198060

c.G920A
c.G920A
c.G920A

p.G307E
p.G307E
p.G307E

27.4

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

NRAP

08C79293

chr10:
115411623-115411623

G

A

exonic

De novo

nonsynonymous SNV

NM_001261463
NM_006175
NM_198060

c.C614T
c.C614T
c.C614T

p.S205F
p.S205F
p.S205F

13.87

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E

NRAP

iHART1252

chr10:
115410277-115410277

G

A

exonic

Maternal

stopgain

NM_001261463
NM_006175
NM_198060

c.C703T
c.C703T
c.C703T

p.Q235X
p.Q235X
p.Q235X

37.0

1.652E-5

Ruzzo2019 G

NRAP

iHART1245

chr10:
115410277-115410277

G

A

exonic

Paternal

stopgain

NM_001261463
NM_006175
NM_198060

c.C703T
c.C703T
c.C703T

p.Q235X
p.Q235X
p.Q235X

37.0

1.652E-5

Ruzzo2019 G

NRAP

AU3937301

chr10:
115424885-115424885

A

G

intergenic

De novo

-

Yuen2017 G

NRAP

iHART2083

chr10:
115355414-115355414

G

A

exonic

Maternal

stopgain

NM_006175
NM_001261463
NM_198060

c.C4399T
c.C4504T
c.C4504T

p.R1467X
p.R1502X
p.R1502X

45.0

3.0E-4

Ruzzo2019 G

NRAP

AU000704

chr10:
115368884-115368884

A

C

intronic

De novo

-

Yuen2017 G

NRAP

iHART3011

chr10:
115374675-115374675

G

A

exonic

Paternal

stopgain

NM_006175
NM_001261463
NM_198060

c.C3004T
c.C3109T
c.C3109T

p.R1002X
p.R1037X
p.R1037X

41.0

-

Ruzzo2019 G

NRAP

SP0022296

chr10:
115349597-115349597

G

A

intronic

De novo

-

1.674E-5

Fu2022 E

NRAP

iHART3014

chr10:
115374675-115374675

G

A

exonic

Paternal

stopgain

NM_006175
NM_001261463
NM_198060

c.C3004T
c.C3109T
c.C3109T

p.R1002X
p.R1037X
p.R1037X

41.0

-

Ruzzo2019 G

NRAP

Lim2017:36886

chr10:
115406755-115406755

C

T

exonic

De novo

nonsynonymous SNV

NM_001261463
NM_006175
NM_198060

c.G920A
c.G920A
c.G920A

p.G307E
p.G307E
p.G307E

27.4

-

Lim2017 E

NRAP

2-1169-004

chr10:
115407194-115407194

A

G

intronic

De novo

-

Yuen2017 G

NRAP

EGAN00001101262

chr10:
115410242-115410242

T

G

exonic

De novo

synonymous SNV

NM_001261463
NM_006175
NM_198060

c.A738C
c.A738C
c.A738C

p.T246T
p.T246T
p.T246T

-

3.0E-4

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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