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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     5-0064-003chr16:
18860690-18860690
CGexonicDe novosynonymous SNVNM_015092c.G5472Cp.P1824P--Trost2022 G
Yuen2017 G
Zhou2022 GE
SMG1     1-0413-003chr16:
18966860-18966860
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
SMG1     1-0559-003chr16:
18960409-18960409
CAintergenicDe novo--Yuen2017 G
SMG1     PN400249chr16:
18850002-18850002
TTTCCTGTGACTAAGGATACCTAACTTCCTGGGAAexonicUnknownstopgainNM_015092c.6954_6955insTTCCCAGGAAGTTAGGTATCCTTAGTCACAGGAp.R2319delinsFPGSX--Leblond2019 E
SMG1     1-0700-005Achr16:
18838841-18838841
CAintronicDe novo--Trost2022 G
SMG1     3-0647-000chr16:
18887772-18887772
TCintronicDe novo--Trost2022 G
SMG1     AU2387301chr16:
18823893-18823895
TACTintronicDe novo--Trost2022 G
SMG1     SP0046164chr16:
18853508-18853508
TCintronicDe novo-1.791E-5Fu2022 E
SMG1     SP0058517chr16:
18875043-18875043
GAexonicDe novosynonymous SNVNM_015092c.C3624Tp.N1208N-8.87E-6Fu2022 E
Zhou2022 GE
SMG1     SP0015627chr16:
18880369-18880369
CTintronicDe novo--Fu2022 E
SMG1     SP0080202chr16:
18864867-18864867
CAintronicDe novo--Fu2022 E
Trost2022 G
SMG1     1-0394-003chr16:
18922498-18922498
AGintronicDe novo--Trost2022 G
Yuen2017 G
SMG1     2-1605-003chr16:
18960409-18960409
CAintergenicDe novo--Yuen2017 G
SMG1     Marques2022:88chr16:
18840681-18840681
CTexonicnonsynonymous SNVNM_015092c.G9530Ap.R3177Q25.11.658E-5Marques2022 ET
SMG1     Marques2022:87chr16:
18827703-18827703
AGexonicnonsynonymous SNVNM_015092c.T10223Cp.V3408A22.5-Marques2022 ET
SMG1     2-0300-003chr16:
18960366-18960366
CAintergenicDe novo--Yuen2017 G
SMG1     AU2485305chr16:
18978430-18978430
ATintergenicDe novo--Yuen2017 G
SMG1     SP0103507chr16:
18911319-18911319
GAintronicDe novo39.0-Fu2022 E
Zhou2022 GE
SMG1     5-0004-003chr16:
18960409-18960409
CAintergenicDe novo--Yuen2017 G
SMG1     Marques2022:94chr16:
18847451-18847451
CGexonicnonsynonymous SNVNM_015092c.G7861Cp.G2621R18.861.151E-5Marques2022 ET
SMG1     Marques2022:93chr16:
18846365-18846365
GAexonicnonsynonymous SNVNM_015092c.C8179Tp.R2727C19.63-Marques2022 ET
SMG1     Marques2022:96chr16:
18851024-18851024
GAexonicnonsynonymous SNVNM_015092c.C6941Tp.T2314M20.71.658E-5Marques2022 ET
SMG1     Marques2022:95chr16:
18849539-18849539
GAexonicnonsynonymous SNVNM_015092c.C7210Tp.R2404W17.953.838E-5Marques2022 ET
SMG1     Marques2022:90chr16:
18841262-18841262
GTexonicnonsynonymous SNVNM_015092c.C9119Ap.S3040Y18.33-Marques2022 ET
SMG1     1-0282-003chr16:
18960412-18960412
CCAAAAAintergenicDe novo--Yuen2017 G
SMG1     2-1269-003chr16:
18821447-18821447
CTintronicDe novo--Yuen2016 G
Yuen2017 G
SMG1     Marques2022:89chr16:
18840721-18840721
TCexonicnonsynonymous SNVNM_015092c.A9490Gp.S3164G14.88.283E-6Marques2022 ET
SMG1     Marques2022:92chr16:
18845710-18845710
AGexonicnonsynonymous SNVNM_015092c.T8381Cp.V2794A17.411.715E-5Marques2022 ET
SMG1     2-1508-004chr16:
18960409-18960409
CAintergenicDe novo--Yuen2017 G
SMG1     Marques2022:91chr16:
18844365-18844365
CAexonicnonsynonymous SNVNM_015092c.G8689Tp.G2897C18.6-Marques2022 ET
SMG1     Marques2022:101chr16:
18896984-18896984
ACexonicnonsynonymous SNVNM_015092c.T827Gp.V276G18.9-Marques2022 ET
SMG1     Marques2022:98chr16:
18871010-18871010
AGexonicnonsynonymous SNVNM_015092c.T3821Cp.L1274P18.478.409E-6Marques2022 ET
SMG1     2-1254-003chr16:
18864283-18864283
CAintronicDe novo--Yuen2016 G
Yuen2017 G
SMG1     Marques2022:97chr16:
18869558-18869558
CTexonicnonsynonymous SNVNM_015092c.G4168Ap.V1390M21.73.0E-4Marques2022 ET
SMG1     Marques2022:100chr16:
18882017-18882017
GAexonicnonsynonymous SNVNM_015092c.C2407Tp.R803C21.07.0E-4Marques2022 ET
SMG1     Marques2022:99chr16:
18871027-18871027
TCsplicingsplicing16.47-Marques2022 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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