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Results for "SMC3"

Variant Events: 11

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
SMC3     19991-31601chr10:
112352910-112352910
TCexonicInheritednonsynonymous SNVNM_005445c.T1892Cp.L631P22.8-Callaghan2019 G
SMC3     2-1272-003chr10:
112382819-112382819
TCintergenicDe novo--Yuen2016 G
SMC3     Mahjani2021:40chr10:
112337646-112337646
GCexonicnonsynonymous SNVNM_005445c.G324Cp.Q108H17.62-Mahjani2021 E
SMC3     AU3862305chr10:
112361866-112361866
ATexonicDe novononsynonymous SNVNM_005445c.A3035Tp.K1012I17.85-Yuen2017 G
SMC3     212-21048-1chr10:
112359554-112359555
TTTTTexonicDe novoframeshift insertionNM_005445c.2412dupTp.I804fs--Stessman2017 T
Stessman2017 T
SMC3     236-05-103361chr10:
112363089-112363094
AATTATAintronicDe novo--Satterstrom2020 E
SMC3     AU3846302chr10:
112363089-112363097
AATTATATTAATTintronicDe novo--Yuen2017 G
SMC3     2-1456-004chr10:
112400317-112400317
GAintergenicDe novo--Yuen2017 G
SMC3     11519.p1chr10:
112359556-112359556
CTexonicDe novononsynonymous SNVNM_005445c.C2413Tp.R805C21.78.245E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
SMC3     Uddin2014:39chr10:
112359556-112359556
CTexonicDe novononsynonymous SNVNM_005445c.C2413Tp.R805C21.78.245E-6Uddin2014 E
SMC3     SSC02433chr10:
112359556-112359556
CTexonicDe novononsynonymous SNVNM_005445c.C2413Tp.R805C21.78.245E-6Lim2017 E
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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