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Results for "CYHR1"

Variant Events: 20

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
CYHR1     PN400330chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400332chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400170chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     AU055004chr8:
145690529-145690529		CTintronicDe novo--Yuen2017 G
CYHR1     PN400474chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     1-0339-004chr8:
145683378-145683378		TGintronicDe novo--Yuen2017 G
CYHR1     AU4467302chr8:
145683629-145683629		ACintronicDe novo--Yuen2017 G
CYHR1     11893.p1chr8:
145677925-145677925		CTexonicMosaicnonsynonymous SNVNM_138496c.G514Ap.G172S36.0-Krupp2017 E
CYHR1     2-1579-003chr8:
145680354-145680354		CTintronicDe novo--Yuen2017 G
CYHR1     PN400559chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400546chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400484chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400562chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400361chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400416chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400548chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     1-0563-004chr8:
145682365-145682365		TAintronicDe novo--Yuen2017 G
CYHR1     PN400108chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400262chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 E
CYHR1     PN400534chr8:
145689658-145689658		GGCexonicUnknownframeshift insertionNM_001129888
NM_032687		c.430dupG
c.430dupG		p.A144fs
p.A144fs		-0.0044Leblond2019 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
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