Variant Results

or

Results for "SMG1"

Variant Events: 33

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

SMG1

5-0064-003

chr16:
18860690-18860690

C

G

exonic

De novo

synonymous SNV

NM_015092

c.G5472C

p.P1824P

-

Yuen2017 G

SMG1

1-0413-003

chr16:
18966860-18966860

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

SMG1

1-0559-003

chr16:
18960409-18960409

C

A

intergenic

De novo

-

Yuen2017 G

SMG1

PN400249

chr16:
18850002-18850002

T

TTCCTGTGACTAAGGATACCTAACTTCCTGGGAA

exonic

Unknown

stopgain

NM_015092

c.6954_6955insTTCCCAGGAAGTTAGGTATCCTTAGTCACAGGA

p.R2319delinsFPGSX

-

Leblond2019 E

SMG1

SP0046164

chr16:
18853508-18853508

T

C

intronic

De novo

-

1.791E-5

Fu2022 E

SMG1

SP0058517

chr16:
18875043-18875043

G

A

exonic

De novo

synonymous SNV

NM_015092

c.C3624T

p.N1208N

-

8.87E-6

Fu2022 E

SMG1

SP0015627

chr16:
18880369-18880369

C

T

intronic

De novo

-

Fu2022 E

SMG1

SP0080202

chr16:
18864867-18864867

C

A

intronic

De novo

-

Fu2022 E

SMG1

1-0394-003

chr16:
18922498-18922498

A

G

intronic

De novo

-

Yuen2017 G

SMG1

2-1605-003

chr16:
18960409-18960409

C

A

intergenic

De novo

-

Yuen2017 G

SMG1

Marques2022:88

chr16:
18840681-18840681

C

T

exonic

nonsynonymous SNV

NM_015092

c.G9530A

p.R3177Q

25.1

1.658E-5

Marques2022 ET

SMG1

Marques2022:87

chr16:
18827703-18827703

A

G

exonic

nonsynonymous SNV

NM_015092

c.T10223C

p.V3408A

22.5

-

Marques2022 ET

SMG1

2-0300-003

chr16:
18960366-18960366

C

A

intergenic

De novo

-

Yuen2017 G

SMG1

AU2485305

chr16:
18978430-18978430

A

T

intergenic

De novo

-

Yuen2017 G

SMG1

SP0103507

chr16:
18911319-18911319

G

A

intronic

De novo

39.0

-

Fu2022 E

SMG1

5-0004-003

chr16:
18960409-18960409

C

A

intergenic

De novo

-

Yuen2017 G

SMG1

Marques2022:94

chr16:
18847451-18847451

C

G

exonic

nonsynonymous SNV

NM_015092

c.G7861C

p.G2621R

18.86

1.151E-5

Marques2022 ET

SMG1

Marques2022:93

chr16:
18846365-18846365

G

A

exonic

nonsynonymous SNV

NM_015092

c.C8179T

p.R2727C

19.63

-

Marques2022 ET

SMG1

Marques2022:96

chr16:
18851024-18851024

G

A

exonic

nonsynonymous SNV

NM_015092

c.C6941T

p.T2314M

20.7

1.658E-5

Marques2022 ET

SMG1

Marques2022:95

chr16:
18849539-18849539

G

A

exonic

nonsynonymous SNV

NM_015092

c.C7210T

p.R2404W

17.95

3.838E-5

Marques2022 ET

SMG1

Marques2022:90

chr16:
18841262-18841262

G

T

exonic

nonsynonymous SNV

NM_015092

c.C9119A

p.S3040Y

18.33

-

Marques2022 ET

SMG1

1-0282-003

chr16:
18960412-18960412

C

CAAAAA

intergenic

De novo

-

Yuen2017 G

SMG1

2-1269-003

chr16:
18821447-18821447

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SMG1

Marques2022:89

chr16:
18840721-18840721

T

C

exonic

nonsynonymous SNV

NM_015092

c.A9490G

p.S3164G

14.8

8.283E-6

Marques2022 ET

SMG1

Marques2022:92

chr16:
18845710-18845710

A

G

exonic

nonsynonymous SNV

NM_015092

c.T8381C

p.V2794A

17.41

1.715E-5

Marques2022 ET

SMG1

2-1508-004

chr16:
18960409-18960409

C

A

intergenic

De novo

-

Yuen2017 G

SMG1

Marques2022:91

chr16:
18844365-18844365

C

A

exonic

nonsynonymous SNV

NM_015092

c.G8689T

p.G2897C

18.6

-

Marques2022 ET

SMG1

Marques2022:101

chr16:
18896984-18896984

A

C

exonic

nonsynonymous SNV

NM_015092

c.T827G

p.V276G

18.9

-

Marques2022 ET

SMG1

Marques2022:98

chr16:
18871010-18871010

A

G

exonic

nonsynonymous SNV

NM_015092

c.T3821C

p.L1274P

18.47

8.409E-6

Marques2022 ET

SMG1

2-1254-003

chr16:
18864283-18864283

C

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

SMG1

Marques2022:97

chr16:
18869558-18869558

C

T

exonic

nonsynonymous SNV

NM_015092

c.G4168A

p.V1390M

21.7

3.0E-4

Marques2022 ET

SMG1

Marques2022:100

chr16:
18882017-18882017

G

A

exonic

nonsynonymous SNV

NM_015092

c.C2407T

p.R803C

21.0

7.0E-4

Marques2022 ET

SMG1

Marques2022:99

chr16:
18871027-18871027

T

C

splicing

16.47

-

Marques2022 ET

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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