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Results for "ERCC4"

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
ERCC4     1-0010-005chr16:
14019848-14019848
GCintronicDe novo--Yuen2017 G
ERCC4     1-0381-003chr16:
14025809-14025809
CTintronicDe novo--Yuen2017 G
ERCC4     AU065807chr16:
14064672-14064672
CTintergenicDe novo--Yuen2017 G
ERCC4     AU1909304chr16:
14055469-14055469
TGintergenicDe novo--Yuen2017 G
ERCC4     7-0253-003chr16:
14101291-14101298
TTCATCATTTCATCATCATintergenicDe novo--Yuen2017 G
ERCC4     1-0560-003chr16:
14071711-14071718
CTTTTTTTCTTTTTTintergenicDe novo--Yuen2017 G
ERCC4     AU3052303chr16:
14094015-14094015
GAintergenicDe novo--Yuen2017 G
ERCC4     JASD_Fam0084chr16:
14041797-14041797
ACexonicDe novononsynonymous SNVNM_005236c.A2344Cp.N782H18.42-Takata2018 E
ERCC4     7-0251-003chr16:
14084248-14084261
AATATATATATATAAATATATATATAintergenicDe novo--Yuen2017 G
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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