Variant Results

or

or

Results for "OXTR"

Variant Events: 15

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

OXTR

SP0106656

chr3:
8809753-8809753

C

A

exonic

De novo

nonsynonymous SNV

NM_000916

c.G121T

p.V41L

17.63

-

Fu2022 E
Trost2022 G
Zhou2022 GE

OXTR

IBS-ASD-16653-blood-wgs-ILLUMINA

chr3:
8841747-8841747

T

C

intergenic

De novo

-

-

Kim2024 G

OXTR

IBS-ASD-4843-blood-wgs-ILLUMINA

chr3:
8799210-8799211

GA

G

intronic

De novo

-

-

Kim2024 G

OXTR

1-0509-003

chr3:
8902484-8902484

A

G

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

OXTR

7-0442-003

chr3:
8811077-8811077

T

C

UTR5

De novo

-

-

Trost2022 G

OXTR

1-0285-003

chr3:
8874938-8874938

C

T

intergenic

De novo

-

-

Yuen2017 G

OXTR

5-5180-003

chr3:
8798812-8798812

A

C

intronic

De novo

-

-

Trost2022 G

OXTR

AU3760302

chr3:
8839723-8839723

C

T

intergenic

De novo

-

-

Yuen2017 G

OXTR

1-0269-005

chr3:
8904961-8904961

A

ATTGTGCACAG

intergenic

De novo

-

-

Yuen2017 G

OXTR

2-1729-003

chr3:
8851425-8851425

G

A

intergenic

De novo

-

-

Yuen2017 G

OXTR

PN400476

chr3:
8809033-8809033

C

T

exonic

Unknown

nonsynonymous SNV

NM_000916

c.G841A

p.V281M

25.0

Leblond2019 E

OXTR

GEA486

chr3:
8809342-8809342

G

T

exonic

De novo

nonsynonymous SNV

NM_000916

c.C532A

p.R178S

10.03

-

Fu2022 E

OXTR

2-0256-004

chr3:
8884930-8884930

C

T

intergenic

De novo

-

-

Yuen2017 G

OXTR

2-0300-003

chr3:
8886262-8886262

G

A

intergenic

De novo

-

-

Yuen2017 G

OXTR

PN400284

chr3:
8809033-8809033

C

T

exonic

Unknown

nonsynonymous SNV

NM_000916

c.G841A

p.V281M

25.0

Leblond2019 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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