Variant Results

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Results for "OLFM1"

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

OLFM1

1-0171-005

chr9:
137988189-137988189

C

CCTCCTTCCCCTCCTT

intronic

De novo

-

-

Yuen2017 G

OLFM1

2-0149-004

chr9:
137988136-137988136

C

CCCA

intronic

De novo

-

-

Yuen2017 G

OLFM1

1-0372-003

chr9:
138011670-138011670

C

T

exonic

De novo

synonymous SNV

NM_001282611
NM_001282612
NM_014279

c.C1104T
c.C1023T
c.C1050T

p.Y368Y
p.Y341Y
p.Y350Y

-

Yuen2016 G
Yuen2017 G

OLFM1

AU4007302

chr9:
138059248-138059248

C

T

intergenic

De novo

-

-

Yuen2017 G

OLFM1

1-0253-004

chr9:
137988197-137988197

T

TCCTCCTCC

intronic

De novo

-

-

Yuen2017 G

OLFM1

AU4067301

chr9:
138005461-138005461

G

A

intronic

De novo

-

-

Yuen2017 G

OLFM1

1-0629-003

chr9:
137980016-137980038

GCTCCTCCTCCTCCTCCTCCTCC

GCTCCTCCTCCTCCTCCTCC

intronic

De novo

-

-

Yuen2017 G

OLFM1

10C109030

chr9:
138011670-138011670

C

T

exonic

De novo

synonymous SNV

NM_001282611
NM_001282612
NM_014279

c.C1104T
c.C1023T
c.C1050T

p.Y368Y
p.Y341Y
p.Y350Y

-

Fu2022 E
Satterstrom2020 E

OLFM1

5-0050-004

chr9:
137982207-137982207

T

A

intronic

De novo

-

-

Yuen2017 G

OLFM1

2-0043-003

chr9:
137976406-137976406

G

C

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

OLFM1

5-0110-003

chr9:
138038780-138038780

G

A

intergenic

De novo

-

-

Yuen2017 G

OLFM1

SP0128037

chr9:
137979777-137979777

G

T

UTR5

De novo

-

-

Fu2022 E

OLFM1

GM173276

chr9:
137998551-137998551

G

A

intronic

De novo

-

Fu2022 E

OLFM1

2-1086-003

chr9:
137983444-137983444

C

CACAT

intronic

De novo

-

-

Yuen2017 G

OLFM1

1-0049-004

chr9:
137983356-137983356

C

CACACACACAG

intronic

De novo

-

-

Yuen2017 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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