Variant Results

or

Results for "TRMO"

Variant Events: 12

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

TRMO

mAGRE4507

chr9:
100672587-100672587

G

A

exonic

Maternal

stopgain

NM_016481

c.C721T

p.Q241X

14.53

4.0E-4

Cirnigliaro2023 G

TRMO

AU066206

chr9:
100668417-100668417

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TRMO

1-0323-003

chr9:
100686594-100686594

G

A

intergenic

De novo

-

Yuen2017 G

TRMO

iHART2862

chr9:
100672378-100672379

AG

A

exonic

Paternal

frameshift deletion

NM_016481

c.929delC

p.P310fs

-

1.649E-5

Ruzzo2019 G

TRMO

SP0085756

chr9:
100667223-100667223

C

T

exonic

De novo

nonsynonymous SNV

NM_016481

c.G1118A

p.R373H

13.2

1.649E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

TRMO

70513

chr9:
100672811-100672811

G

A

exonic

De novo

nonsynonymous SNV

NM_016481

c.C497T

p.P166L

36.0

4.119E-5

Fu2022 E
Trost2022 G

TRMO

SP0164724

chr9:
100672545-100672545

C

T

exonic

De novo

nonsynonymous SNV

NM_016481

c.G763A

p.G255S

15.33

-

Trost2022 G

TRMO

mAGRE2862

chr9:
100672378-100672379

AG

A

exonic

Paternal

frameshift deletion

NM_016481

c.929delC

p.P310fs

-

1.649E-5

Cirnigliaro2023 G

TRMO

SP0171629

chr9:
100666762-100666762

G

A

downstream

De novo

-

Trost2022 G

TRMO

MT_75.3

chr9:
100670796-100670796

G

A

intronic

De novo

-

Trost2022 G

TRMO

11168.p1

chr9:
100675724-100675724

T

C

exonic

nonsynonymous SNV

NM_016481

c.A368G

p.N123S

20.2

2.0E-4

Zhou2022 GE

TRMO

14287.p1

chr9:
100672811-100672811

G

A

exonic

De novo

nonsynonymous SNV

NM_016481

c.C497T

p.P166L

36.0

4.119E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
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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