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Results for "DLX3"

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
DLX3     1-0067-005chr17:
48118643-48118643
GAintergenicDe novo--Yuen2017 G
DLX3     1-0259-005chr17:
48118643-48118643
GAintergenicDe novo--Yuen2017 G
DLX3     SSC08982chr17:
48069119-48069119
GAexonicDe novononsynonymous SNVNM_005220c.C626Tp.S209L24.3-Lim2017 E
DLX3     1-0541-003chr17:
48118647-48118648
ATAintergenicDe novo--Yuen2017 G
DLX3     1-0144-004chr17:
48113707-48113707
GAintergenicDe novo--Yuen2017 G
DLX3     AU4410302chr17:
48087276-48087277
ACACCintergenicDe novo--Yuen2017 G
DLX3     86873593chr17:
48070876-48070876
ACexonicUnknownnonsynonymous SNVNM_005220c.T404Gp.I135S23.1-Wang2020 T
Wang2020 T
DLX3     EGAN00001101388chr17:
48069091-48069091
GAexonicDe novosynonymous SNVNM_005220c.C654Tp.T218T-3.3E-5Satterstrom2020 E
DLX3     AU043804chr17:
48087796-48087796
TCintergenicDe novo--Yuen2017 G
DLX3     U2P6Fchr17:
48069174-48069174
CTexonicUnknownnonsynonymous SNVNM_005220c.G571Ap.G191R21.78.248E-6Wang2020 T
Wang2020 T
DLX3     2-1355-004chr17:
48125842-48125842
GAintergenicDe novo--Yuen2017 G
DLX3     13782.p1chr17:
48069119-48069119
GAexonicDe novononsynonymous SNVNM_005220c.C626Tp.S209L24.3-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
DLX3     11407.p1chr17:
48072206-48072206
CTexonicDe novononsynonymous SNVNM_005220c.G157Ap.G53S9.807-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 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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