Variant Results

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Results for "SMG9"

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

SMG9

552-06-107496

chr19:
44244330-44244330

G

A

exonic

De novo

stopgain

NM_019108

c.C742T

p.R248X

40.0

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SMG9

2-1510-003

chr19:
44235695-44235695

G

A

UTR3

De novo

-

-

Trost2022 G
Yuen2017 G

SMG9

Marques2022:149

chr19:
44254857-44254859

CAT

C

exonic

frameshift deletion

NM_019108

c.35_36del

p.Y12fs

-

-

Marques2022 ET

SMG9

SP0116045

chr19:
44252010-44252010

G

A

exonic

nonsynonymous SNV

NM_019108

c.C265T

p.P89S

5.991

-

Zhou2022 GE

SMG9

SP0062005

chr19:
44237208-44237208

C

T

intronic

De novo

-

-

Fu2022 E
Trost2022 G

SMG9

Marques2022:146

chr19:
44251821-44251821

G

A

exonic

nonsynonymous SNV

NM_019108

c.C454T

p.R152W

19.78

Marques2022 ET

SMG9

Marques2022:145

chr19:
44242324-44242324

G

A

exonic

nonsynonymous SNV

NM_019108

c.C859T

p.R287C

22.5

-

Marques2022 ET

SMG9

Marques2022:148

chr19:
44254848-44254848

G

A

exonic

nonsynonymous SNV

NM_019108

c.C46T

p.R16W

22.4

Marques2022 ET

SMG9

Marques2022:147

chr19:
44251836-44251836

A

T

exonic

nonsynonymous SNV

NM_019108

c.T439A

p.Y147N

23.3

-

Marques2022 ET

SMG9

AU3913302

chr19:
44240307-44240307

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

SMG9

5-5098-003

chr19:
44249362-44249362

G

T

intronic

De novo

-

-

Trost2022 G

SMG9

5-0014-003

chr19:
44267833-44267833

C

T

intergenic

De novo

-

-

Yuen2017 G

Source Variant Information

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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
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