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Results for "SMG1"
Variant Events: 36
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
-
-
Trost2022
G
Yuen2017
G
Zhou2022
G
E
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
1-0700-005A
chr16:
18838841-18838841
C
A
intronic
De novo
-
-
Trost2022
G
SMG1
3-0647-000
chr16:
18887772-18887772
T
C
intronic
De novo
-
-
Trost2022
G
SMG1
AU2387301
chr16:
18823893-18823895
TAC
T
intronic
De novo
-
-
Trost2022
G
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
Zhou2022
G
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
Trost2022
G
SMG1
1-0394-003
chr16:
18922498-18922498
A
G
intronic
De novo
-
-
Trost2022
G
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
E
T
SMG1
Marques2022:87
chr16:
18827703-18827703
A
G
exonic
nonsynonymous SNV
NM_015092
c.T10223C
p.V3408A
22.5
-
Marques2022
E
T
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
Zhou2022
G
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
E
T
SMG1
Marques2022:93
chr16:
18846365-18846365
G
A
exonic
nonsynonymous SNV
NM_015092
c.C8179T
p.R2727C
19.63
-
Marques2022
E
T
SMG1
Marques2022:96
chr16:
18851024-18851024
G
A
exonic
nonsynonymous SNV
NM_015092
c.C6941T
p.T2314M
20.7
1.658E-5
Marques2022
E
T
SMG1
Marques2022:95
chr16:
18849539-18849539
G
A
exonic
nonsynonymous SNV
NM_015092
c.C7210T
p.R2404W
17.95
3.838E-5
Marques2022
E
T
SMG1
Marques2022:90
chr16:
18841262-18841262
G
T
exonic
nonsynonymous SNV
NM_015092
c.C9119A
p.S3040Y
18.33
-
Marques2022
E
T
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
E
T
SMG1
Marques2022:92
chr16:
18845710-18845710
A
G
exonic
nonsynonymous SNV
NM_015092
c.T8381C
p.V2794A
17.41
1.715E-5
Marques2022
E
T
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
E
T
SMG1
Marques2022:101
chr16:
18896984-18896984
A
C
exonic
nonsynonymous SNV
NM_015092
c.T827G
p.V276G
18.9
-
Marques2022
E
T
SMG1
Marques2022:98
chr16:
18871010-18871010
A
G
exonic
nonsynonymous SNV
NM_015092
c.T3821C
p.L1274P
18.47
8.409E-6
Marques2022
E
T
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
E
T
SMG1
Marques2022:100
chr16:
18882017-18882017
G
A
exonic
nonsynonymous SNV
NM_015092
c.C2407T
p.R803C
21.0
7.0E-4
Marques2022
E
T
SMG1
Marques2022:99
chr16:
18871027-18871027
T
C
splicing
splicing
16.47
-
Marques2022
E
T
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
Curation notes
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