Variant Results

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or

Results for "OLFM2"

Variant Events: 13

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

OLFM2

1-0489-003

chr19:
10015343-10015343

C

G

intronic

De novo

-

-

Yuen2016 G

OLFM2

2-1725-003

chr19:
10023451-10023451

G

A

intronic

De novo

-

-

Yuen2017 G

OLFM2

2007-24164

chr19:
9971445-9971445

C

T

exonic

nonsynonymous SNV

NM_001304347
NM_058164

c.G161A
c.G89A

p.G54D
p.G30D

28.5

-

Callaghan2019 G

OLFM2

AU071804

chr19:
10047000-10047016

ACAGCAGCAGCAGCAGC

ACAGCAGCAGCAGC

exonic

De novo

nonframeshift deletion

NM_058164

c.27_29del

p.9_10del

-

-

Yuen2017 G

OLFM2

AU079605

chr19:
9975297-9975297

A

G

intronic

De novo

-

-

Yuen2017 G

OLFM2

3-0428-000

chr19:
10015862-10015862

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OLFM2

5-0119-003

chr19:
10036256-10036256

C

T

intronic

De novo

-

-

Trost2022 G

OLFM2

2-0215-003

chr19:
9970153-9970153

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OLFM2

1-0288-004

chr19:
10029935-10029935

C

A

intronic

De novo

-

-

Trost2022 G

OLFM2

2-0215-003

chr19:
9969353-9969353

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

OLFM2

1-0037-004

chr19:
10032491-10032491

T

C

intronic

De novo

-

-

Trost2022 G

OLFM2

1033

chr19:
9981725-9981725

C

T

intronic

De novo

-

-

Trost2022 G

OLFM2

MSSNG00045-004

chr19:
9984352-9984352

G

A

intronic

De novo

-

-

Trost2022 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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