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Results for "HEATR5B"

Variant Events: 14

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
HEATR5B     CC1085.201chr2:
37234143-37234143
TCintronicDe novo-6.0E-4Satterstrom2020 E
HEATR5B     10C116035chr2:
37299319-37299319
GAexonicDe novostopgainNM_019024c.C703Tp.R235X33.08.24E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
HEATR5B     AU2140306chr2:
37239661-37239661
GAintronicDe novo--Yuen2017 G
HEATR5B     14370.p1chr2:
37210655-37210655
CAintronicDe novo--Turner2016 G
HEATR5B     2-0057-004chr2:
37288999-37288999
GAintronicDe novo--Yuen2017 G
HEATR5B     iHART2172chr2:
37267637-37267637
ACexonicDe novononsynonymous SNVNM_019024c.T2881Gp.L961V20.3-Ruzzo2019 G
HEATR5B     A26chr2:
37229156-37229156
AAAintronicDe novo--Wu2018 G
HEATR5B     iHART1536chr2:
37259886-37259886
GAexonicPaternalstopgainNM_019024c.C3247Tp.R1083X43.02.481E-5Ruzzo2019 G
HEATR5B     AU051504chr2:
37268600-37268600
AGintronicDe novo--Yuen2017 G
HEATR5B     iHART2171chr2:
37276812-37276812
GAexonicPaternalstopgainNM_019024c.C2680Tp.Q894X42.0-Ruzzo2019 G
HEATR5B     13963.p1chr2:
37234420-37234420
AGexonicDe novononsynonymous SNVNM_019024c.T4550Cp.I1517T14.126.604E-5Ji2016 E
Krumm2015 E
Satterstrom2020 E
HEATR5B     1-0439-003chr2:
37247247-37247247
CGintronicDe novo--Yuen2017 G
HEATR5B     2-0323-004chr2:
37304078-37304078
TCexonicDe novosynonymous SNVNM_019024c.A423Gp.L141L--Yuen2015 G
Yuen2017 G
HEATR5B     1-0382-003chr2:
37280479-37280479
TCintronicDe 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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