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Results for "SMG5"

Variant Events: 14

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
SMG5     Marques2022:14chr1:
156231165-156231165
AGexonicnonsynonymous SNVNM_015327c.T2066Cp.L689S28.6-Marques2022 ET
SMG5     Marques2022:13chr1:
156228924-156228924
AGexonicnonsynonymous SNVNM_015327c.T2314Cp.F772L32.0-Marques2022 ET
SMG5     Marques2022:16chr1:
156233299-156233299
GAexonicnonsynonymous SNVNM_015327c.C1918Tp.R640C21.55.781E-5Marques2022 ET
SMG5     Marques2022:15chr1:
156231189-156231189
CGexonicnonsynonymous SNVNM_015327c.G2042Cp.S681T25.61.65E-5Marques2022 ET
SMG5     Marques2022:12chr1:
156220780-156220780
AGexonicnonsynonymous SNVNM_015327c.T2836Cp.Y946H21.41.0E-4Marques2022 ET
SMG5     Marques2022:22chr1:
156244418-156244418
GAexonicnonsynonymous SNVNM_015327c.C514Tp.H172Y19.391.647E-5Marques2022 ET
SMG5     Marques2022:21chr1:
156237971-156237971
ACexonicnonsynonymous SNVNM_015327c.T843Gp.C281W17.277.0E-4Marques2022 ET
SMG5     2-1266-003chr1:
156226878-156226878
CAintronicDe novo--Yuen2017 G
SMG5     Marques2022:18chr1:
156235857-156235857
CTexonicnonsynonymous SNVNM_015327c.G1570Ap.D524N29.08.239E-6Marques2022 ET
SMG5     Marques2022:17chr1:
156235692-156235692
GAexonicnonsynonymous SNVNM_015327c.C1735Tp.R579C25.7-Marques2022 ET
SMG5     Marques2022:20chr1:
156236048-156236048
CTexonicnonsynonymous SNVNM_015327c.G1379Ap.R460H28.68.244E-6Marques2022 ET
SMG5     Marques2022:19chr1:
156235910-156235910
GAexonicnonsynonymous SNVNM_015327c.C1517Tp.T506M27.34.944E-5Marques2022 ET
SMG5     3-0325-000chr1:
156239745-156239745
CTintronicDe novo--Trost2022 G
SMG5     4-0035-003chr1:
156238823-156238823
AGintronicDe novo--Trost2022 G
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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