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Results for "SMG7"

Variant Events: 19

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     2-1567-003chr1:
183462047-183462047
AGintronicDe novo--Yuen2017 G
SMG7     Lim2017:70513chr1:
183502868-183502868
CTexonicDe novononsynonymous SNVNM_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     PN400385chr1:
183522295-183522295
CTexonicUnknownstopgainNM_201569c.C3496Tp.R1166X25.1-Leblond2019 E
SMG7     Marques2022:24chr1:
183495800-183495800
ATexonicnonsynonymous SNVNM_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     Marques2022:23chr1:
183485030-183485030
AGexonicnonsynonymous SNVNM_173156
NM_201568
NM_201569
c.A83G
c.A83G
c.A83G
p.E28G
p.E28G
p.E28G
31.0-Marques2022 ET
SMG7     Marques2022:30chr1:
183514391-183514391
ACexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A2188C
c.A2314C
c.A2176C
c.A2176C
p.T730P
p.T772P
p.T726P
p.T726P
21.94.961E-5Marques2022 ET
SMG7     Marques2022:29chr1:
183514098-183514098
CAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C1895A
c.C2021A
c.C1883A
c.C1883A
p.P632H
p.P674H
p.P628H
p.P628H
22.30.004Marques2022 ET
SMG7     Marques2022:32chr1:
183519894-183519894
AGexonicnonsynonymous SNVNM_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     Marques2022:31chr1:
183518978-183518978
CTexonicnonsynonymous SNVNM_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     Marques2022:26chr1:
183511350-183511350
GCexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.G1429C
c.G1555C
c.G1555C
c.G1555C
p.G477R
p.G519R
p.G519R
p.G519R
23.83.0E-4Marques2022 ET
SMG7     Marques2022:25chr1:
183498535-183498535
GAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.G584A
c.G710A
c.G710A
c.G710A
p.R195Q
p.R237Q
p.R237Q
p.R237Q
23.81.0E-4Marques2022 ET
SMG7     Marques2022:28chr1:
183514098-183514098
CAexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C1895A
c.C2021A
c.C1883A
c.C1883A
p.P632H
p.P674H
p.P628H
p.P628H
22.30.004Marques2022 ET
SMG7     Marques2022:27chr1:
183513518-183513518
CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C1747T
c.C1873T
c.C1735T
c.C1735T
p.P583S
p.P625S
p.P579S
p.P579S
21.48.249E-6Marques2022 ET
SMG7     1-0259-005chr1:
183449464-183449464
GAintronicDe novo--Yuen2017 G
SMG7     14287.p1chr1:
183502868-183502868
CTexonicDe novononsynonymous SNVNM_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
SMG7     Marques2022:34chr1:
183520048-183520048
ATexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A3170T
c.A3146T
c.A3008T
c.A3158T
p.D1057V
p.D1049V
p.D1003V
p.D1053V
23.50.0022Marques2022 ET
SMG7     AU1521301chr1:
183446616-183446620
TACACTACintronicDe novo--Yuen2017 G
SMG7     Marques2022:33chr1:
183520043-183520043
ACexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.A3165C
c.A3141C
c.A3003C
c.A3153C
p.K1055N
p.K1047N
p.K1001N
p.K1051N
18.545.0E-4Marques2022 ET
SMG7     Marques2022:35chr1:
183520216-183520216
CTexonicnonsynonymous SNVNM_001174061
NM_173156
NM_201568
NM_201569
c.C3215T
c.C3191T
c.C3053T
c.C3203T
p.T1072M
p.T1064M
p.T1018M
p.T1068M
17.059.068E-5Marques2022 ET
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 notesView
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