Variant Results

or

Results for "OLFML2B"

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

OLFML2B

MSSNG00010-003

chr1:
161967027-161967027

C

G

intronic

De novo

-

Trost2022 G

OLFML2B

5-5057-003

chr1:
161963689-161963690

TG

T

intronic

De novo

-

Trost2022 G

OLFML2B

SP0210594

chr1:
161976259-161976259

A

G

exonic

De novo

nonsynonymous SNV

NM_001297713
NM_015441

c.T551C
c.T551C

p.V184A
p.V184A

15.91

-

Trost2022 G

OLFML2B

mAGRE4736

chr1:
161976203-161976203

G

A

exonic

Maternal

stopgain

NM_001297713
NM_015441

c.C607T
c.C607T

p.R203X
p.R203X

38.0

2.0E-4

Cirnigliaro2023 G

OLFML2B

MT_184.3

chr1:
161974634-161974634

C

T

intronic

De novo

-

Trost2022 G

OLFML2B

SP0040281

chr1:
161989852-161989852

T

A

exonic

De novo

stopgain

NM_001297713
NM_015441

c.A295T
c.A295T

p.K99X
p.K99X

38.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

OLFML2B

3-0544-000

chr1:
161953466-161953466

C

T

exonic

De novo

synonymous SNV

NM_001297713
NM_015441

c.G2255A
c.G2252A

p.X752X
p.X751X

-

Trost2022 G
Zhou2022 GE

OLFML2B

7-0383-003

chr1:
161957850-161957851

GA

G

intronic

De novo

-

Trost2022 G

OLFML2B

1-1055-003

chr1:
161957583-161957583

T

A

intronic

De novo

-

Trost2022 G

OLFML2B

2-1242-003

chr1:
162023971-162023971

C

T

intergenic

De novo

-

Yuen2017 G

OLFML2B

3-0146-000

chr1:
161985745-161985745

T

A

intronic

De novo

-

Trost2022 G

OLFML2B

MSSNG00369-005

chr1:
161978320-161978320

C

T

intronic

De novo

-

Trost2022 G

OLFML2B

11818.p1

chr1:
161973172-161973172

G

A

intronic

De novo

-

Wilfert2021 G

OLFML2B

DEASD_0097_001

chr1:
161989809-161989809

G

A

exonic

De novo

nonsynonymous SNV

NM_001297713
NM_015441

c.C338T
c.C338T

p.S113L
p.S113L

12.93

1.0E-4

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

OLFML2B

08C78430

chr1:
161953699-161953699

G

A

exonic

De novo

synonymous SNV

NM_001297713
NM_015441

c.C2022T
c.C2019T

p.Y674Y
p.Y673Y

-

Fu2022 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
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