Variant Results

or

Results for "NIN"

Variant Events: 32

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

NIN

F9958-1

chr14:
51228624-51228624

C

G

exonic

De novo

nonsynonymous SNV

NM_016350
NM_020921
NM_182944
NM_182946

c.G1780C
c.G1780C
c.G1780C
c.G1780C

p.G594R
p.G594R
p.G594R
p.G594R

15.96

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NIN

3-0223-000

chr14:
51205455-51205455

G

A

intronic

De novo

-

Trost2022 G

NIN

SSC06946

chr14:
51223326-51223328

AAT

A

exonic

De novo

frameshift deletion

NM_020921
NM_182944
NM_182946

c.4420_4421del
c.4420_4421del
c.4420_4421del

p.I1474fs
p.I1474fs
p.I1474fs

-

Trost2022 G

NIN

7-0371-003

chr14:
51191039-51191039

A

C

intronic

De novo

-

Trost2022 G

NIN

Li2017:19563

chr14:
51238156-51238156

T

C

exonic

Unknown

nonsynonymous SNV

NM_016350
NM_020921
NM_182944
NM_182946

c.A1012G
c.A1012G
c.A1012G
c.A1012G

p.N338D
p.N338D
p.N338D
p.N338D

25.8

-

Li2017 T

NIN

1-0539-003

chr14:
51317843-51317843

T

C

intergenic

De novo

-

Yuen2017 G

NIN

2-1391-003

chr14:
51337747-51337747

G

GA

intergenic

De novo

-

Yuen2017 G

NIN

1-0559-003

chr14:
51287230-51287230

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NIN

2-1154-003

chr14:
51195671-51195671

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

NIN

2-1358-003

chr14:
51307358-51307358

G

A

intergenic

De novo

-

Yuen2017 G

NIN

1-1066-003

chr14:
51282307-51282307

G

A

intronic

De novo

-

Trost2022 G

NIN

1-1213-003

chr14:
51288907-51288907

C

T

intronic

De novo

-

Trost2022 G

NIN

2-1688-003

chr14:
51227143-51227143

G

C

intronic

De novo

-

Trost2022 G

NIN

MSSNG00077-004

chr14:
51233705-51233705

A

C

intronic

De novo

-

Trost2022 G

NIN

14391_p1

chr14:
51245480-51245480

T

C

intronic

De novo

-

Fu2022 E

NIN

SP0035185

chr14:
51194338-51194338

G

A

UTR3

De novo

-

Fu2022 E
Trost2022 G

NIN

1-0112-004

chr14:
51237715-51237715

G

A

intronic

De novo

-

2.503E-5

Trost2022 G
Yuen2017 G
Zhou2022 GE

NIN

SP0046604

chr14:
51245598-51245598

A

T

intronic

De novo

-

Fu2022 E

NIN

1-0978-003

chr14:
51210363-51210363

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

NIN

SP0080277

chr14:
51196464-51196464

T

C

intronic

De novo

-

Fu2022 E

NIN

mAGRE2474

chr14:
51224702-51224702

G

A

exonic

Paternal

stopgain

NM_020921
NM_182944
NM_182946

c.C3046T
c.C3046T
c.C3046T

p.Q1016X
p.Q1016X
p.Q1016X

38.0

-

Cirnigliaro2023 G

NIN

mAGRE2473

chr14:
51224702-51224702

G

A

exonic

Paternal

stopgain

NM_020921
NM_182944
NM_182946

c.C3046T
c.C3046T
c.C3046T

p.Q1016X
p.Q1016X
p.Q1016X

38.0

-

Cirnigliaro2023 G

NIN

mAGRE5640

chr14:
51221459-51221459

C

T

splicing

Maternal

splicing

17.72

-

Cirnigliaro2023 G

NIN

AU4306302

chr14:
51328268-51328268

C

T

intergenic

De novo

-

Yuen2017 G

NIN

iHART2474

chr14:
51224702-51224702

G

A

exonic

Paternal

stopgain

NM_020921
NM_182944
NM_182946

c.C3046T
c.C3046T
c.C3046T

p.Q1016X
p.Q1016X
p.Q1016X

38.0

-

Ruzzo2019 G

NIN

09C96267

chr14:
51211129-51211129

G

GTAAGTACAAAGGGGTATTTCTGA

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

NIN

Li2017:20609

chr14:
51196293-51196293

T

TG

exonic

Unknown

frameshift insertion

NM_016350
NM_020921
NM_182944
NM_182946

c.3886dupC
c.6025dupC
c.6025dupC
c.6025dupC

p.Q1296fs
p.Q2009fs
p.Q2009fs
p.Q2009fs

-

Li2017 T

NIN

SP0015413

chr14:
51237563-51237563

G

A

intronic

-

Zhou2022 GE

NIN

iHART2473

chr14:
51224702-51224702

G

A

exonic

Paternal

stopgain

NM_020921
NM_182944
NM_182946

c.C3046T
c.C3046T
c.C3046T

p.Q1016X
p.Q1016X
p.Q1016X

38.0

-

Ruzzo2019 G

NIN

Wang2023:20

chr14:
51196407-51196407

G

A

exonic

De novo

nonsynonymous SNV

NM_016350
NM_020921
NM_182944
NM_182946

c.C3773T
c.C5912T
c.C5912T
c.C5912T

p.P1258L
p.P1971L
p.P1971L
p.P1971L

13.4

1.0E-4

Wang2023 E

NIN

13183.p1

chr14:
51223326-51223328

AAT

A

exonic

De novo

frameshift deletion

NM_020921
NM_182944
NM_182946

c.4420_4421del
c.4420_4421del
c.4420_4421del

p.I1474fs
p.I1474fs
p.I1474fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

NIN

14391.p1

chr14:
51245480-51245480

T

C

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
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
	More