or
or
Exact

Results for "HACE1"

Variant Events: 10

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
HACE1     14162.p1chr6:
105224911-105224911
GAexonicDe novononsynonymous SNVNM_020771c.C1753Tp.R585W20.8-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
HACE1     1-0552-003chr6:
105322977-105322977
CTintergenicDe novo--Yuen2017 G
HACE1     2-0219-004chr6:
105286002-105286002
ACintronicDe novo--Yuen2017 G
HACE1     2-0285-004chr6:
105193465-105193465
GAintronicDe novo--Yuen2017 G
HACE1     11597.p1chr6:
105297143-105297143
GAintronicMosaic, De novo--Dou2017 E
Satterstrom2020 E
HACE1     1-0373-003chr6:
105368285-105368285
TCintergenicDe novo--Yuen2017 G
HACE1     2-0132-004chr6:
105310709-105310709
CTintergenicDe novo--Yuen2017 G
HACE1     1-0609-003chr6:
105205527-105205527
CAintronicDe novo--Yuen2017 G
HACE1     11252.p1chr6:
105338750-105338750
GAintergenicDe novo--Turner2016 G
HACE1     14264.p1chr6:
105298852-105298855
ATAGAexonicDe novononframeshift deletionNM_020771c.148_150delp.50_50del--Satterstrom2020 E
Source Variant Information

, -

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
More