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Results for "HTR1D"

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
HTR1D     12175.p1chr1:
23592370-23592370
CTintergenicDe novo--Turner2016 G
HTR1D     2-1506-003chr1:
23602463-23602463
GAintergenicDe novo--Yuen2017 G
HTR1D     2-1506-003chr1:
23594806-23594806
GAintergenicDe novo--Yuen2017 G
HTR1D     AU3806304chr1:
23574832-23574832
TCintergenicDe novo--Yuen2017 G
HTR1D     SSC03540chr1:
23520417-23520417
GTexonicDe novononsynonymous SNVNM_000864c.C296Ap.T99N14.42-Lim2017 E
HTR1D     1-0206-004chr1:
23603551-23603551
TCintergenicDe novo--Yuen2017 G
HTR1D     AU2075301chr1:
23591479-23591479
CTintergenicDe novo--Yuen2017 G
HTR1D     2-1408-004chr1:
23604830-23604833
GCAAGintergenicDe novo--Yuen2017 G
HTR1D     AU3984302chr1:
23527440-23527440
TCintergenicDe novo--Yuen2017 G
HTR1D     MT_151chr1:
23520238-23520238
TAexonicMaternalnonsynonymous SNVNM_000864c.A475Tp.I159F15.38-Toma2013 E
HTR1D     11657.p1chr1:
23520417-23520417
GTexonicDe novononsynonymous SNVNM_000864c.C296Ap.T99N14.42-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
HTR1D     1-0357-003chr1:
23596051-23596051
CTintergenicDe 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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