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Results for "SMG8"

Variant Events: 16

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
SMG8     AU3889305chr17:
57288790-57288790		AGexonicDe novononsynonymous SNVNM_018149c.A1378Gp.I460V9.608-Yuen2017 G
SMG8     Marques2022:137chr17:
57290456-57290456		GAexonicnonsynonymous SNVNM_018149c.G2272Ap.G758S27.91.648E-5Marques2022 ET
SMG8     SP0044941chr17:
57288395-57288395		CTexonicDe novononsynonymous SNVNM_018149c.C983Tp.T328I20.7-Fu2022 E
SMG8     Marques2022:126chr17:
57287453-57287453		CTexonicnonsynonymous SNVNM_018149c.C41Tp.A14V8.93.0E-4Marques2022 ET
SMG8     Marques2022:125chr17:
57287425-57287425		GAexonicnonsynonymous SNVNM_018149c.G13Ap.V5M13.220.001Marques2022 ET
SMG8     Marques2022:128chr17:
57288043-57288043		CTexonicnonsynonymous SNVNM_018149c.C631Tp.L211F18.37-Marques2022 ET
SMG8     Marques2022:127chr17:
57287970-57287970		CGexonicnonsynonymous SNVNM_018149c.C558Gp.H186Q16.652.615E-5Marques2022 ET
SMG8     Marques2022:124chr17:
57287425-57287425		GAexonicnonsynonymous SNVNM_018149c.G13Ap.V5M13.220.001Marques2022 ET
SMG8     Marques2022:134chr17:
57288997-57288997		GTexonicnonsynonymous SNVNM_018149c.G1585Tp.A529S18.090.0017Marques2022 ET
SMG8     Marques2022:133chr17:
57288766-57288766		GCexonicnonsynonymous SNVNM_018149c.G1354Cp.A452P20.24.122E-5Marques2022 ET
SMG8     Marques2022:136chr17:
57289151-57289151		TCexonicnonsynonymous SNVNM_018149c.T1739Cp.F580S17.8-Marques2022 ET
SMG8     Marques2022:135chr17:
57288997-57288997		GTexonicnonsynonymous SNVNM_018149c.G1585Tp.A529S18.090.0017Marques2022 ET
SMG8     Marques2022:130chr17:
57288044-57288044		TCexonicnonsynonymous SNVNM_018149c.T632Cp.L211P18.13.306E-5Marques2022 ET
SMG8     Marques2022:129chr17:
57288044-57288044		TCexonicnonsynonymous SNVNM_018149c.T632Cp.L211P18.13.306E-5Marques2022 ET
SMG8     Marques2022:132chr17:
57288766-57288766		GCexonicnonsynonymous SNVNM_018149c.G1354Cp.A452P20.24.122E-5Marques2022 ET
SMG8     Marques2022:131chr17:
57288401-57288401		CTexonicnonsynonymous SNVNM_018149c.C989Tp.P330L21.8-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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