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Results for "DCLRE1C"

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
DCLRE1C     Hu2022:31chr10:
14981850-14981850
TCexonicUnknownnonsynonymous SNVNM_001033855c.A265Gp.T89A18.523.337E-5Hu2022 T
DCLRE1C     Hu2022:31chr10:
14976777-14976777
GAintronicUnknown--Hu2022 T
DCLRE1C     1-1058-003chr10:
14951153-14951153
GAexonicDe novononsynonymous SNVNM_001289076
NM_001289078
NM_022487
NM_001033855
NM_001033857
NM_001289077
NM_001033858
NM_001289079
c.C988T
c.C988T
c.C988T
c.C1333T
c.C973T
c.C973T
c.C973T
c.C973T
p.R330C
p.R330C
p.R330C
p.R445C
p.R325C
p.R325C
p.R325C
p.R325C
6.0198.239E-6Trost2022 G
Zhou2022 GE
DCLRE1C     AU3506303chr10:
14984056-14984056
ATintronicDe novo--Yuen2017 G
DCLRE1C     36870chr10:
14977449-14977449
CGintronicDe novo--Trost2022 G
DCLRE1C     SP0113212chr10:
14976326-14976327
CACintronicDe novo--Trost2022 G
DCLRE1C     14557.p1chr10:
14977449-14977449
CGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
DCLRE1C     2-1258-003chr10:
14953079-14953079
CTintronicDe novo--Trost2022 G
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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