Variant Results

or

Results for "SMG6"

Variant Events: 52

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

SMG6

Marques2022:110

chr17:
2203223-2203223

T

C

exonic

nonsynonymous SNV

NM_017575

c.A824G

p.D275G

14.96

0.0012

Marques2022 ET

SMG6

Marques2022:109

chr17:
2203223-2203223

T

C

exonic

nonsynonymous SNV

NM_017575

c.A824G

p.D275G

14.96

0.0012

Marques2022 ET

SMG6

1-0928-003

chr17:
1970887-1970887

C

T

intronic

De novo

-

Trost2022 G

SMG6

Marques2022:112

chr17:
2203356-2203356

C

G

exonic

nonsynonymous SNV

NM_017575

c.G691C

p.D231H

10.91

0.0064

Marques2022 ET

SMG6

Marques2022:111

chr17:
2203320-2203320

G

A

exonic

nonsynonymous SNV

NM_017575

c.C727T

p.R243C

17.38

2.473E-5

Marques2022 ET

SMG6

Marques2022:106

chr17:
2196223-2196223

C

T

exonic

nonsynonymous SNV

NM_017575

c.G2200A

p.D734N

34.0

8.237E-6

Marques2022 ET

SMG6

Marques2022:105

chr17:
2186072-2186072

G

A

exonic

nonsynonymous SNV

NM_017575

c.C2530T

p.R844W

14.36

1.647E-5

Marques2022 ET

SMG6

Marques2022:108

chr17:
2202443-2202443

G

A

exonic

nonsynonymous SNV

NM_017575

c.C1604T

p.T535M

8.08

4.141E-5

Marques2022 ET

SMG6

Marques2022:107

chr17:
2202438-2202438

C

A

exonic

nonsynonymous SNV

NM_017575

c.G1609T

p.G537C

13.78

1.0E-4

Marques2022 ET

SMG6

1-0261-004

chr17:
2008779-2008779

G

A

intronic

De novo

-

Trost2022 G

SMG6

1-0565-003

chr17:
1988578-1988578

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMG6

MSSNG00108-003

chr17:
2013658-2013658

G

T

intronic

De novo

-

Trost2022 G

SMG6

3-0785-000

chr17:
2005496-2005496

A

C

intronic

De novo

-

Trost2022 G

SMG6

5-5154-003

chr17:
2008619-2008619

C

T

intronic

De novo

-

Trost2022 G

SMG6

2-1547-003

chr17:
1996761-1996761

C

T

intronic

De novo

-

Trost2022 G

SMG6

Marques2022:113

chr17:
2203868-2203868

C

G

exonic

nonsynonymous SNV

NM_017575

c.G179C

p.R60T

18.42

8.247E-6

Marques2022 ET

SMG6

7-0486-003

chr17:
2000722-2000722

G

A

intronic

De novo

-

Trost2022 G

SMG6

2-1120-003

chr17:
1978335-1978335

G

A

intronic

De novo

-

Trost2022 G

SMG6

4-0069-003

chr17:
1978377-1978377

C

T

intronic

De novo

-

Trost2022 G

SMG6

2-1823-003

chr17:
2153533-2153533

G

T

intronic

De novo

-

Trost2022 G

SMG6

2-1811-004

chr17:
2181856-2181856

A

G

intronic

De novo

-

Trost2022 G

SMG6

AU3721302

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SMG6

1-0111-003

chr17:
2112189-2112189

C

T

intronic

De novo

-

Trost2022 G

SMG6

4-0062-003

chr17:
2133063-2133063

G

A

intronic

De novo

-

Trost2022 G

SMG6

AU1795302

chr17:
2064729-2064729

A

T

intronic

De novo

-

Trost2022 G

SMG6

MSSNG00367-004

chr17:
2103127-2103127

G

A

intronic

De novo

-

Trost2022 G

SMG6

MSSNG00002-004

chr17:
2040438-2040438

G

T

intronic

De novo

-

Trost2022 G

SMG6

1-0649-003

chr17:
2064690-2064690

A

G

intronic

De novo

-

Trost2022 G

SMG6

80001103390

chr17:
2202772-2202772

T

C

exonic

De novo

synonymous SNV

NM_017575

c.A1275G

p.P425P

-

3.298E-5

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SMG6

5-0077-004

chr17:
2001273-2001273

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMG6

5-1006-003

chr17:
2194542-2194542

G

A

intronic

De novo

-

Trost2022 G

SMG6

AU031004

chr17:
2063857-2063857

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMG6

1-0279-004

chr17:
2091719-2091719

G

A

exonic

De novo

nonsynonymous SNV

NM_001256828
NM_001256827
NM_017575

c.C236T
c.C236T
c.C2960T

p.T79I
p.T79I
p.T987I

10.27

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

SMG6

mAGRE5022

chr17:
2186147-2186147

G

A

exonic

Paternal

stopgain

NM_017575

c.C2455T

p.Q819X

45.0

-

Cirnigliaro2023 G

SMG6

1-0155-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

SMG6

5-5231-003

chr17:
2185993-2185993

G

T

exonic

De novo

nonsynonymous SNV

NM_017575

c.C2609A

p.S870Y

24.7

-

Trost2022 G
Zhou2022 GE

SMG6

2-1153-003

chr17:
1974127-1974127

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SMG6

mAGRE5023

chr17:
2186147-2186147

G

A

exonic

Paternal

stopgain

NM_017575

c.C2455T

p.Q819X

45.0

-

Cirnigliaro2023 G

SMG6

AU075308

chr17:
2202480-2202480

T

C

exonic

Unknown

nonsynonymous SNV

NM_017575

c.A1567G

p.T523A

0.004

3.0E-4

Chahrour2012 E

SMG6

AU075308

chr17:
2203527-2203527

G

T

exonic

Unknown

nonsynonymous SNV

NM_017575

c.C520A

p.Q174K

8.225

0.001

Chahrour2012 E

SMG6

AU1848302

chr17:
2123323-2123323

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMG6

1-0338-005

chr17:
1993748-1993748

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMG6

SP0028639

chr17:
2202675-2202675

G

A

exonic

De novo

nonsynonymous SNV

NM_017575

c.C1372T

p.P458S

14.31

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SMG6

SP0061153

chr17:
2185901-2185901

T

G

intronic

De novo

-

Fu2022 E

SMG6

SP0140973

chr17:
1989078-1989078

C

T

exonic

De novo

nonsynonymous SNV

NM_001282326
NM_001256828
NM_001256827
NM_017575

c.G208A
c.G751A
c.G751A
c.G3475A

p.V70I
p.V251I
p.V251I
p.V1159I

11.32

8.236E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

SMG6

12108.p1

chr17:
2203809-2203809

T

C

exonic

De novo

nonsynonymous SNV

NM_017575

c.A238G

p.N80D

12.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

SMG6

12108_p1

chr17:
2203809-2203809

T

C

exonic

De novo

nonsynonymous SNV

NM_017575

c.A238G

p.N80D

12.2

-

Fu2022 E

SMG6

1-0099-003

chr17:
2194312-2194312

T

C

intronic

De novo

-

Yuen2017 G

SMG6

Marques2022:102

chr17:
1972183-1972183

C

T

exonic

nonsynonymous SNV

NM_001282326
NM_001256828
NM_001256827
NM_017575

c.G457A
c.G1000A
c.G1000A
c.G3724A

p.E153K
p.E334K
p.E334K
p.E1242K

30.0

0.0019

Marques2022 ET

SMG6

Marques2022:104

chr17:
2139929-2139929

A

T

exonic

nonsynonymous SNV

NM_001256828
NM_001256827
NM_017575

c.T2A
c.T2A
c.T2726A

p.M1K
p.M1K
p.M909K

26.7

-

Marques2022 ET

SMG6

Marques2022:103

chr17:
1972183-1972183

C

T

exonic

nonsynonymous SNV

NM_001282326
NM_001256828
NM_001256827
NM_017575

c.G457A
c.G1000A
c.G1000A
c.G3724A

p.E153K
p.E334K
p.E334K
p.E1242K

30.0

0.0019

Marques2022 ET

SMG6

1-0043-003

chr17:
2184185-2184185

G

A

intronic

De novo

-

Trost2022 G
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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