Variant Results

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or

Results for "NTSR2"

Variant Events: 16

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

NTSR2

iHART1205

chr2:
11798732-11798734

AAG

A

exonic

Maternal

frameshift deletion

NM_012344

c.1104_1105del

p.L368fs

-

Ruzzo2019 G

NTSR2

7-0361-003

chr2:
11801355-11801355

C

T

intronic

De novo

-

-

Trost2022 G

NTSR2

13951.p1

chr2:
11799957-11799957

C

T

intronic

De novo

-

-

Turner2016 G

NTSR2

iHART2370

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Ruzzo2019 G

NTSR2

iHART2373

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Ruzzo2019 G

NTSR2

mAGRE1205

chr2:
11798732-11798734

AAG

A

exonic

Maternal

frameshift deletion

NM_012344

c.1104_1105del

p.L368fs

-

Cirnigliaro2023 G

NTSR2

NDAR_INVRR429WG7_wes1

chr2:
11798722-11798722

G

A

exonic

De novo

synonymous SNV

NM_012344

c.C1116T

p.A372A

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

NTSR2

iHART2372

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Ruzzo2019 G

NTSR2

iHART2376

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Ruzzo2019 G

NTSR2

AU4343302

chr2:
11807518-11807518

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

NTSR2

mAGRE2376

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Cirnigliaro2023 G

NTSR2

Cukier2014:37994

chr2:
11802293-11802293

A

T

exonic

Unknown

nonsynonymous SNV

NM_012344

c.T698A

p.L233Q

21.3

-

Cukier2014 E

NTSR2

mAGRE2373

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Cirnigliaro2023 G

NTSR2

mAGRE2372

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Cirnigliaro2023 G

NTSR2

mAGRE2370

chr2:
11810166-11810166

C

T

exonic

Maternal

stopgain

NM_012344

c.G90A

p.W30X

37.0

Cirnigliaro2023 G

NTSR2

mAGRE6196

chr2:
11798839-11798839

G

T

exonic

Paternal

stopgain

NM_012344

c.C999A

p.Y333X

12.14

Cirnigliaro2023 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
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