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Results for "ERCC2"

Variant Events: 12

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
ERCC2     3-0393-000chr19:
45860846-45860846
CTintronicDe novo-8.258E-5Trost2022 G
ERCC2     mAGRE2145chr19:
45868311-45868311
GAexonicMaternalstopgainNM_001130867
NM_000400
c.C394T
c.C466T
p.R132X
p.R156X
38.01.665E-5Cirnigliaro2023 G
ERCC2     AU3124304chr19:
45858987-45858987
CGsplicingMaternalsplicing23.11.651E-5Cirnigliaro2023 G
ERCC2     AU3124302chr19:
45858987-45858987
CGsplicingMaternalsplicing23.11.651E-5Cirnigliaro2023 G
ERCC2     iHART2145chr19:
45868311-45868311
GAexonicMaternalstopgainNM_001130867
NM_000400
c.C394T
c.C466T
p.R132X
p.R156X
38.01.665E-5Ruzzo2019 G
ERCC2     SP0055226chr19:
45873470-45873470
ATexonicDe novononsynonymous SNVNM_000400c.T26Ap.L9Q14.16-Fu2022 E
Trost2022 G
Zhou2022 GE
ERCC2     AU1933302chr19:
45855465-45855466
ACAsplicingPaternalsplicing--Cirnigliaro2023 G
ERCC2     1-0763-004chr19:
45859498-45859498
GAintronicDe novo--Trost2022 G
Yuen2017 G
ERCC2     iHART2671chr19:
45855465-45855466
ACAsplicingPaternalsplicing--Ruzzo2019 G
ERCC2     Hu2022:82chr19:
45856520-45856520
CTexonicMaternalnonsynonymous SNVNM_000400c.G1738Ap.A580T33.01.659E-5Hu2022 T
ERCC2     AU031004chr19:
45881600-45881600
TAintergenicDe novo--Yuen2017 G
ERCC2     Hu2022:82chr19:
45868096-45868100
TGAGTTexonicPaternalframeshift deletionNM_001130867
NM_000400
c.518_521del
c.590_593del
p.Y173fs
p.Y197fs
--Hu2022 T
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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