Variant Results

or

Results for "SMG7"

Variant Events: 31

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

SMG7

2-1740-003

chr1:
183477916-183477917

GC

G

intronic

De novo

-

Trost2022 G

SMG7

5-0067-003

chr1:
183469439-183469439

A

G

intronic

De novo

-

Trost2022 G

SMG7

1-1222-003

chr1:
183520163-183520163

C

A

intronic

De novo

-

Trost2022 G

SMG7

SP0133991

chr1:
183486854-183486854

A

G

exonic

De novo

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.A85G
c.A211G
c.A211G
c.A211G

p.T29A
p.T71A
p.T71A
p.T71A

15.83

-

Trost2022 G

SMG7

1025

chr1:
183446577-183446577

A

G

intronic

De novo

-

Trost2022 G

SMG7

1-0627-007

chr1:
183446577-183446577

A

G

intronic

De novo

-

Trost2022 G

SMG7

7-0441-003

chr1:
183446577-183446577

A

G

intronic

De novo

-

Trost2022 G

SMG7

4-0014-003

chr1:
183446577-183446577

A

G

intronic

De novo

-

Trost2022 G

SMG7

2-1567-003

chr1:
183462047-183462047

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMG7

Lim2017:70513

chr1:
183502868-183502868

C

T

exonic

De novo

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C938T
c.C1064T
c.C1064T
c.C1064T

p.S313F
p.S355F
p.S355F
p.S355F

14.22

-

Lim2017 E

SMG7

PN400385

chr1:
183522295-183522295

C

T

exonic

Unknown

stopgain

NM_201569

c.C3496T

p.R1166X

25.1

-

Leblond2019 E

SMG7

SP0031103

chr1:
183502381-183502381

G

A

exonic

De novo

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.G800A
c.G926A
c.G926A
c.G926A

p.R267H
p.R309H
p.R309H
p.R309H

33.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

SMG7

SP0024224

chr1:
183514458-183514458

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

SMG7

SP0041147

chr1:
183441703-183441703

G

A

UTR5

De novo

-

Fu2022 E
Trost2022 G

SMG7

Marques2022:24

chr1:
183495800-183495800

A

T

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.A256T
c.A382T
c.A382T
c.A382T

p.I86F
p.I128F
p.I128F
p.I128F

21.8

-

Marques2022 ET

SMG7

Marques2022:23

chr1:
183485030-183485030

A

G

exonic

nonsynonymous SNV

NM_173156
NM_201568
NM_201569

c.A83G
c.A83G
c.A83G

p.E28G
p.E28G
p.E28G

31.0

-

Marques2022 ET

SMG7

Marques2022:30

chr1:
183514391-183514391

A

C

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.A2188C
c.A2314C
c.A2176C
c.A2176C

p.T730P
p.T772P
p.T726P
p.T726P

21.9

4.961E-5

Marques2022 ET

SMG7

Marques2022:29

chr1:
183514098-183514098

C

A

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C1895A
c.C2021A
c.C1883A
c.C1883A

p.P632H
p.P674H
p.P628H
p.P628H

22.3

0.004

Marques2022 ET

SMG7

Marques2022:32

chr1:
183519894-183519894

A

G

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.A3016G
c.A2992G
c.A2854G
c.A3004G

p.T1006A
p.T998A
p.T952A
p.T1002A

24.2

-

Marques2022 ET

SMG7

70513

chr1:
183502868-183502868

C

T

exonic

De novo

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C938T
c.C1064T
c.C1064T
c.C1064T

p.S313F
p.S355F
p.S355F
p.S355F

14.22

-

Fu2022 E
Trost2022 G

SMG7

Marques2022:31

chr1:
183518978-183518978

C

T

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C2927T
c.C2903T
c.C2765T
c.C2915T

p.P976L
p.P968L
p.P922L
p.P972L

18.4

-

Marques2022 ET

SMG7

Marques2022:26

chr1:
183511350-183511350

G

C

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.G1429C
c.G1555C
c.G1555C
c.G1555C

p.G477R
p.G519R
p.G519R
p.G519R

23.8

3.0E-4

Marques2022 ET

SMG7

Marques2022:25

chr1:
183498535-183498535

G

A

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.G584A
c.G710A
c.G710A
c.G710A

p.R195Q
p.R237Q
p.R237Q
p.R237Q

23.8

1.0E-4

Marques2022 ET

SMG7

Marques2022:28

chr1:
183514098-183514098

C

A

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C1895A
c.C2021A
c.C1883A
c.C1883A

p.P632H
p.P674H
p.P628H
p.P628H

22.3

0.004

Marques2022 ET

SMG7

Marques2022:27

chr1:
183513518-183513518

C

T

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C1747T
c.C1873T
c.C1735T
c.C1735T

p.P583S
p.P625S
p.P579S
p.P579S

21.4

8.249E-6

Marques2022 ET

SMG7

1-0259-005

chr1:
183449464-183449464

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SMG7

14287.p1

chr1:
183502868-183502868

C

T

exonic

De novo

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C938T
c.C1064T
c.C1064T
c.C1064T

p.S313F
p.S355F
p.S355F
p.S355F

14.22

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

SMG7

Marques2022:34

chr1:
183520048-183520048

A

T

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.A3170T
c.A3146T
c.A3008T
c.A3158T

p.D1057V
p.D1049V
p.D1003V
p.D1053V

23.5

0.0022

Marques2022 ET

SMG7

AU1521301

chr1:
183446616-183446620

TACAC

TAC

intronic

De novo

-

Yuen2017 G

SMG7

Marques2022:33

chr1:
183520043-183520043

A

C

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.A3165C
c.A3141C
c.A3003C
c.A3153C

p.K1055N
p.K1047N
p.K1001N
p.K1051N

18.54

5.0E-4

Marques2022 ET

SMG7

Marques2022:35

chr1:
183520216-183520216

C

T

exonic

nonsynonymous SNV

NM_001174061
NM_173156
NM_201568
NM_201569

c.C3215T
c.C3191T
c.C3053T
c.C3203T

p.T1072M
p.T1064M
p.T1018M
p.T1068M

17.05

9.068E-5

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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