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Results for "DNAJC17"

Variant Events: 5

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
DNAJC17     1-0285-003chr15:
41087615-41087615
GAintronicDe novo--Yuen2017 G
DNAJC17     iHART1571chr15:
41060234-41060234
GTexonicPaternalstopgainNM_018163c.C819Ap.Y273X10.11-Ruzzo2019 G
DNAJC17     EGAN00001101241chr15:
41068785-41068785
ACexonicDe novononsynonymous SNVNM_018163c.T336Gp.S112R12.63-Satterstrom2020 E
DNAJC17     80001101626chr15:
41060155-41060155
CGexonicDe novononsynonymous SNVNM_018163c.G898Cp.E300Q13.538.319E-6Satterstrom2020 E
DNAJC17     AU045512chr15:
41083611-41083611
AGintronicDe 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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