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Results for "SLX4"

Variant Events: 10

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
SLX4     1-0552-003chr16:
3650409-3650409
GAintronicDe novo--Yuen2017 G
SLX4     2-1417-003chr16:
3667656-3667656
GCintergenicDe novo--Yuen2017 G
SLX4     12219.p1chr16:
3641020-3641020
GAexonicMosaicsynonymous SNVNM_032444c.C2619Tp.A873A-2.471E-5Dou2017 E
SLX4     iHART2215chr16:
3640478-3640478
GTexonicPaternalstopgainNM_032444c.C3161Ap.S1054X44.0-Ruzzo2019 G
SLX4     Lim2017:35874chr16:
3640983-3640983
CGexonicDe novononsynonymous SNVNM_032444c.G2656Cp.V886L11.59-Lim2017 E
SLX4     Codina-Sola2015:ASD_26chr16:
3647643-3647643
GAexonicPaternalstopgainNM_032444c.C1420Tp.Q474X42.0-Codina-Sola2015 E
SLX4     2-1291-003chr16:
3650465-3650486
CCAGAGCCTTCCAGAATGCAGACCAGAintronicDe novo--Yuen2017 G
SLX4     AU4308302chr16:
3640924-3640924
CTexonicDe novosynonymous SNVNM_032444c.G2715Ap.E905E--Yuen2017 G
SLX4     11677.p1chr16:
3640983-3640983
CGexonicDe novononsynonymous SNVNM_032444c.G2656Cp.V886L11.59-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
SLX4     13697.p1chr16:
3644492-3644492
AGexonicDe novononsynonymous SNVNM_032444c.T2122Cp.F708L23.4-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 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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