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Results for "SMG9"

Variant Events: 12

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
SMG9     AU3913302chr19:
44240307-44240307
AGintronicDe novo--Trost2022 G
Yuen2017 G
SMG9     552-06-107496chr19:
44244330-44244330
GAexonicDe novostopgainNM_019108c.C742Tp.R248X40.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SMG9     2-1510-003chr19:
44235695-44235695
GAUTR3De novo--Trost2022 G
Yuen2017 G
SMG9     Marques2022:149chr19:
44254857-44254859
CATCexonicframeshift deletionNM_019108c.35_36delp.Y12fs--Marques2022 ET
SMG9     SP0116045chr19:
44252010-44252010
GAexonicnonsynonymous SNVNM_019108c.C265Tp.P89S5.991-Zhou2022 GE
SMG9     SP0062005chr19:
44237208-44237208
CTintronicDe novo--Fu2022 E
Trost2022 G
SMG9     5-5098-003chr19:
44249362-44249362
GTintronicDe novo--Trost2022 G
SMG9     Marques2022:146chr19:
44251821-44251821
GAexonicnonsynonymous SNVNM_019108c.C454Tp.R152W19.789.032E-6Marques2022 ET
SMG9     Marques2022:145chr19:
44242324-44242324
GAexonicnonsynonymous SNVNM_019108c.C859Tp.R287C22.5-Marques2022 ET
SMG9     Marques2022:148chr19:
44254848-44254848
GAexonicnonsynonymous SNVNM_019108c.C46Tp.R16W22.48.314E-6Marques2022 ET
SMG9     5-0014-003chr19:
44267833-44267833
CTintergenicDe novo--Yuen2017 G
SMG9     Marques2022:147chr19:
44251836-44251836
ATexonicnonsynonymous SNVNM_019108c.T439Ap.Y147N23.3-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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