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Results for "DAPK2"

Variant Events: 11

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
DAPK2     1-0347-003chr15:
64288323-64288323
TCintronicDe novo--Yuen2017 G
DAPK2     2-0242-003chr15:
64279925-64279925
ATintronicDe novo--Yuen2017 G
DAPK2     1429001chr15:
64222616-64222616
CTexonicDe novononsynonymous SNVNM_014326c.G622Ap.A208T13.28-Satterstrom2020 E
DAPK2     2-0006-004chr15:
64361559-64361559
TGintergenicDe novo--Yuen2017 G
DAPK2     AU2165301chr15:
64215430-64215430
TCintronicDe novo--Yuen2017 G
DAPK2     7-0123-003chr15:
64229209-64229209
GCintronicDe novo--Yuen2017 G
DAPK2     AU4013303chr15:
64268089-64268089
GAintronicDe novo--Yuen2017 G
DAPK2     74-0765chr15:
64275843-64275843
CAexonicInheritednonsynonymous SNVNM_014326c.G203Tp.R68L28.24.0E-4Patowary2019 E
DAPK2     AU3849302chr15:
64305950-64305950
ACintronicDe novo--Yuen2017 G
DAPK2     AU3937301chr15:
64251673-64251673
CTintronicDe novo--Yuen2017 G
DAPK2     2-1425-004chr15:
64305495-64305495
CAintronicDe novo--Yuen2017 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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