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Results for "SOX7"

Variant Events: 8

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
SOX7     1-0278-003chr8:
10616632-10616632
CTintergenicDe novo--Yuen2016 G
SOX7     Chen2017:19chr8:
10583812-10583812
CTexonicDe novosynonymous SNVNM_031439c.G603Ap.L201L--Chen2017 E
SOX7     200675300@1082034284chr8:
10583275-10583275
CTexonicDe novosynonymous SNVNM_031439c.G1140Ap.T380T--Satterstrom2020 E
SOX7     5-0111-003chr8:
10584160-10584160
CTexonicDe novosynonymous SNVNM_031439c.G255Ap.A85A--Yuen2017 G
SOX7     2-1352-003chr8:
10583692-10583692
CTexonicDe novosynonymous SNVNM_031439c.G723Ap.P241P--Jiang2013 G
Yuen2016 G
SOX7     2-1318-004chr8:
10620787-10620787
TCintergenicDe novo--Yuen2017 G
SOX7     2-1594-003chr8:
10606652-10606652
CTintergenicDe novo--Yuen2017 G
SOX7     200675366@1082034453chr8:
10583812-10583812
CTexonicDe novosynonymous SNVNM_031439c.G603Ap.L201L--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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