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Results for "HAX1"

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
HAX1     2-1415-004chr1:
154252340-154252340
TCintergenicDe novo--Yuen2017 G
HAX1     1-0677-003chr1:
154257285-154257285
GAintergenicDe novo--Yuen2017 G
HAX1     A23chr1:
154270922-154270922
CGintergenicDe novo--Wu2018 G
HAX1     AU4129303chr1:
154260517-154260517
GAintergenicDe novo--Yuen2017 G
HAX1     AU1795303chr1:
154255375-154255375
CAintergenicDe novo--Yuen2017 G
HAX1     iHART1855chr1:
154245848-154245849
TGTexonicPaternalframeshift deletionNM_006118c.91delGp.E31fs-1.0E-4Ruzzo2019 G
HAX1     2-1506-003chr1:
154276460-154276460
AGintergenicDe novo--Yuen2017 G
HAX1     Kim2020:B15chr1:
154247456-154247456
CAexonicDe novononsynonymous SNVNM_001018837
NM_006118
c.C391A
c.C535A
p.P131T
p.P179T
3.42-Kim2020 E
Kim2020 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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