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Results for "HEATR4"

Variant Events: 8

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
HEATR4     iHART1921chr14:
73989290-73989292
TTCTexonicPaternalframeshift deletionNM_203309
NM_001220484
c.565_566del
c.565_566del
p.E189fs
p.E189fs
-1.655E-5Ruzzo2019 G
HEATR4     2-0318-003chr14:
73973662-73973662
GAintronicDe novo--Yuen2017 G
HEATR4     iHART1768chr14:
73980858-73980866
TCTCACCCATexonicMaternalframeshift deletionNM_203309
NM_001220484
c.1283_1290del
c.1283_1290del
p.V428fs
p.V428fs
--Ruzzo2019 G
HEATR4     1-0059-003chr14:
73956071-73956071
GTintronicDe novo--Yuen2017 G
HEATR4     AU4473301chr14:
73977312-73977312
GCintronicDe novo--Yuen2017 G
HEATR4     SP0139142chr14:
73978668-73978668
TGintronicDe novo--Fu2022 E
HEATR4     SP0105081chr14:
73978668-73978668
TGintronicDe novo--Fu2022 E
HEATR4     AU3730301chr14:
74018509-74018509
GAintronicDe 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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