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Results for "HRH1"

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
HRH1     13964.p1chr3:
11220299-11220299
CGintronicDe novo--Turner2016 G
HRH1     11111.p1chr3:
11300939-11300939
GAexonicDe novosynonymous SNVNM_001098211
NM_001098212
NM_001098213
NM_000861
c.G216A
c.G216A
c.G216A
c.G216A
p.A72A
p.A72A
p.A72A
p.A72A
-8.247E-6Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
HRH1     3-0442-000chr3:
11220847-11220847
GAintronicDe novo--Yuen2017 G
HRH1     AU000704chr3:
11294341-11294341
GAintronicDe novo--Yuen2017 G
HRH1     1-0299-004chr3:
11238057-11238061
CACAACintronicDe novo--Yuen2017 G
HRH1     111311chr3:
11301352-11301352
AGexonicnonsynonymous SNVNM_001098211
NM_001098212
NM_001098213
NM_000861
c.A629G
c.A629G
c.A629G
c.A629G
p.Y210C
p.Y210C
p.Y210C
p.Y210C
22.21.648E-5Woodbury-Smith2022 E
HRH1     SSC02441chr3:
11300939-11300939
GAexonicDe novosynonymous SNVNM_001098211
NM_001098212
NM_001098213
NM_000861
c.G216A
c.G216A
c.G216A
c.G216A
p.A72A
p.A72A
p.A72A
p.A72A
-8.247E-6Lim2017 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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