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Results for "HRH2"

Variant Events: 7

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
HRH2     AU043804chr5:
175121108-175121108
TCintergenicDe novo--Yuen2017 G
HRH2     1-0595-005chr5:
175213766-175213766
CTintergenicDe novo--Yuen2017 G
HRH2     2-1314-003chr5:
175095476-175095476
CTintronicDe novo--Yuen2016 G
HRH2     SSC04693chr5:
175110636-175110636
CTexonicDe novononsynonymous SNVNM_022304
NM_001131055
c.C400T
c.C400T
p.R134W
p.R134W
17.52-Lim2017 E
HRH2     7-0166-003chr5:
175218757-175218757
CTintergenicDe novo--Yuen2017 G
HRH2     A11chr5:
175172172-175172172
ACintergenicDe novo--Wu2018 G
HRH2     12420.p1chr5:
175110636-175110636
CTexonicDe novononsynonymous SNVNM_022304
NM_001131055
c.C400T
c.C400T
p.R134W
p.R134W
17.52-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
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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