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Results for "HSPA9"

Variant Events: 17

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
HSPA9     2-1206-003chr5:
137900279-137900279
GAintronicDe novo--Yuen2016 G
Yuen2017 G
HSPA9     iHART1912chr5:
137902403-137902405
CCTCexonicMaternalframeshift deletionNM_004134c.882_883delp.T294fs-2.0E-4Ruzzo2019 G
HSPA9     iHART1910chr5:
137902403-137902405
CCTCexonicMaternalframeshift deletionNM_004134c.882_883delp.T294fs-2.0E-4Ruzzo2019 G
HSPA9     2-0045-003chr5:
137944988-137944988
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
HSPA9     AU2569301chr5:
137904999-137904999
GAintronicDe novo--Yuen2017 G
HSPA9     2-0028-003chr5:
138058477-138058477
CTintergenicDe novo--Yuen2017 G
HSPA9     2-1406-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
HSPA9     2-1134-003chr5:
137919300-137919300
GAintergenicDe novo--Yuen2017 G
HSPA9     1-0067-005chr5:
137897208-137897208
TCintronicDe novo--Yuen2017 G
HSPA9     1-0222-003chr5:
137979989-137979989
TCintergenicDe novo--Yuen2017 G
HSPA9     2-1339-003chr5:
137966094-137966094
GAintergenicDe novo--Yuen2017 G
HSPA9     AU3052302chr5:
137899462-137899462
GAintronicDe novo--Yuen2017 G
HSPA9     AU3906301chr5:
137892276-137892276
GAexonicDe novosynonymous SNVNM_004134c.C1827Tp.N609N--Yuen2017 G
HSPA9     AU4235302chr5:
137958520-137958520
CGintergenicDe novo--Yuen2017 G
HSPA9     2-1335-004chr5:
138012275-138012275
TAintergenicDe novo--Yuen2017 G
HSPA9     1-0067-004chr5:
137918667-137918667
TGintergenicDe novo--Yuen2017 G
HSPA9     1-0715-003chr5:
137924580-137924580
CTintergenicDe 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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