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Results for "STYXL1"

Variant Events: 17

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
STYXL1     PN400266chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400149chr7:
75657971-75657971		GAexonicMosaic Inh., UnknownstopgainNM_016086c.C154Tp.R52X30.01.678E-5Leblond2019 E
Leblond2019 E
STYXL1     PN400150chr7:
75657971-75657971		GAexonicMosaic Inh., UnknownstopgainNM_016086c.C154Tp.R52X30.01.678E-5Leblond2019 E
Leblond2019 E
STYXL1     PN400325chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400540chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400289chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400576chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400308chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400575chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     2-1075-003chr7:
75642733-75642737		TTTTGTintronicDe novo--Trost2022 G
STYXL1     PN400539chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     REACH000001chr7:
75654293-75654293		CAintronicDe novo--Trost2022 G
STYXL1     1-0332-003chr7:
75631726-75631729		TGAATintronicDe novo--Trost2022 G
STYXL1     PN400367chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400125chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     PN400182chr7:
75658016-75658016		GAexonicUnknownnonsynonymous SNVNM_016086c.C109Tp.R37C17.015.002E-5Leblond2019 E
STYXL1     14384.p1chr7:
75625830-75625830		TCexonicMosaicnonsynonymous SNVNM_016086c.A898Gp.I300V6.882-Krupp2017 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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