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or
Exact

Results for "XPC"

Variant Events: 9

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
XPC     AU066104chr3:
14192110-14192110
GAintronicDe novo--Yuen2017 G
XPC     AU050704chr3:
14192568-14192568
GAintronicDe novo--Yuen2017 G
XPC     638-05-104703chr3:
14199768-14199768
CAexonicDe novostopgainNM_004628c.G1615Tp.E539X15.53-Satterstrom2020 E
XPC     EGAN00001101422chr3:
14199814-14199814
TCexonicDe novosynonymous SNVNM_004628c.A1569Gp.R523R--Satterstrom2020 E
XPC     12161.p1chr3:
14187559-14187559
GCexonicDe novononsynonymous SNVNM_004628c.C2705Gp.A902G23.24.0E-4Satterstrom2020 E
XPC     iHART1495chr3:
14209830-14209830
GAexonicMaternalstopgainNM_004628c.C463Tp.R155X19.971.66E-5Ruzzo2019 G
XPC     iHART2051chr3:
14199510-14199510
CTsplicingPaternalsplicing14.89-Ruzzo2019 G
XPC     SP0006477chr3:
14209774-14209774
CTexonicDe novosynonymous SNVNM_004628c.G519Ap.A173A-9.07E-6Feliciano2019 E
XPC     10C109936chr3:
14211930-14211930
TCintronicDe novo--Kosmicki2017 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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