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Results for "HARS2"
Variant Events: 7
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
HARS2
12953.p1
chr5:
140076709-140076710
CG
C
intronic
De novo
-
-
Dong2014
E
Kosmicki2017
E
Satterstrom2020
E
HARS2
mAGRE6071
chr5:
140076959-140076959
C
T
exonic
Maternal
stopgain
NM_001278732
NM_001278731
NM_012208
c.C733T
c.C1090T
c.C1165T
p.R245X
p.R364X
p.R389X
28.7
-
Cirnigliaro2023
G
HARS2
ASC_11383-1
chr5:
140075390-140075390
A
C
exonic
De novo
nonsynonymous SNV
NM_001278732
NM_001278731
NM_012208
c.A161C
c.A518C
c.A593C
p.E54A
p.E173A
p.E198A
25.0
-
Fu2022
E
HARS2
G01-GEA-219-HI
chr5:
140073913-140073913
C
T
intronic
De novo
-
3.307E-5
Satterstrom2020
E
Trost2022
G
HARS2
G01_GEA539HI
chr5:
140071311-140071311
G
A
exonic
De novo
synonymous SNV
NM_001278731
NM_012208
c.G78A
c.G78A
p.S26S
p.S26S
-
-
Fu2022
E
HARS2
SSC06134
chr5:
140076709-140076710
CG
C
intronic
De novo
-
-
Trost2022
G
HARS2
SP0144489
chr5:
140075329-140075329
G
A
exonic
De novo
nonsynonymous SNV
NM_001278732
NM_001278731
NM_012208
c.G100A
c.G457A
c.G532A
p.D34N
p.D153N
p.D178N
34.0
-
Fu2022
E
Trost2022
G
Zhou2022
G
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 notes
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