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Results for "DNAJC13"

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
DNAJC13     iHART2029chr3:
132172496-132172496
TTCexonicMaternalframeshift insertionNM_015268c.799dupCp.D266fs--Ruzzo2019 G
DNAJC13     Al-Mubarak2017:ASD-18chr3:
132235581-132235581
AGexonicUnknownnonsynonymous SNVNM_015268c.A5594Gp.N1865S20.4-Al-Mubarak2017 E
DNAJC13     AU1687303chr3:
132146206-132146206
CGintronicDe novo--Yuen2017 G
DNAJC13     AU188Achr3:
132175637-132175637
CTexonicDe novononsynonymous SNVNM_015268c.C1310Tp.A437V35.0-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
DNAJC13     AU4032307chr3:
132202036-132202036
GTintronicDe novo--Yuen2017 G
DNAJC13     14517.p1chr3:
132247145-132247145
CTexonicDe novononsynonymous SNVNM_015268c.C6494Tp.A2165V26.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
DNAJC13     Lim2017:36759chr3:
132247145-132247145
CTexonicDe novononsynonymous SNVNM_015268c.C6494Tp.A2165V26.3-Lim2017 E
DNAJC13     379-09-111873chr3:
132203484-132203484
TCexonicDe novononsynonymous SNVNM_015268c.T3235Cp.S1079P17.78-Satterstrom2020 E
DNAJC13     AU1687302chr3:
132146206-132146206
CGintronicDe novo--Yuen2017 G
DNAJC13     2-0304-004chr3:
132213585-132213585
GTintronicDe novo--Yuen2017 G
DNAJC13     13554.p1chr3:
132196737-132196737
GAsplicingMosaicsplicing25.2-Dou2017 E
DNAJC13     1-0372-003chr3:
132177295-132177295
AGintronicDe novo--Yuen2016 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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