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Results for "DERA"

Variant Events: 13

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
DERA     AU2248302chr12:
16319814-16319814
CTintergenicDe novo--Yuen2017 G
DERA     2-1066-003chr12:
16250079-16250079
ACintergenicDe novo--Yuen2017 G
DERA     5-0105-003chr12:
16107622-16107622
GAintronicDe novo--Yuen2017 G
DERA     2-1508-004chr12:
16111164-16111164
AATATCATexonicDe novononframeshift insertionNM_001300779
NM_015954
c.172_173insTATCAT
c.172_173insTATCAT
p.T58delinsISS
p.T58delinsISS
-2.291E-5Yuen2017 G
DERA     2-0145-004chr12:
16073831-16073833
GTCGintronicDe novo--Yuen2017 G
DERA     AU1987302chr12:
16122688-16122689
AGAintronicDe novo--Yuen2017 G
DERA     1-0210-004chr12:
16295710-16295710
TCintergenicDe novo--Yuen2017 G
DERA     2-1277-003chr12:
16162164-16162164
TAintronicDe novo--Yuen2017 G
DERA     12572.p1chr12:
16308071-16308071
GCintergenicDe novo--Wilfert2021 G
DERA     TAS_F0143Ychr12:
16109827-16109827
AGintronicDe novo--Satterstrom2020 E
DERA     AU3913302chr12:
16130662-16130662
GAintronicDe novo--Yuen2017 G
DERA     iHART2051chr12:
16112859-16112859
GAsplicingPaternalsplicing17.09-Ruzzo2019 G
DERA     iHART2049chr12:
16112859-16112859
GAsplicingPaternalsplicing17.09-Ruzzo2019 G
Source Variant Information

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Source:

Paper alias:

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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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