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Results for "HARS"

Variant Events: 11

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
HARS     iHART2343chr5:
140059424-140059424
ATexonicMaternalstopgainNM_001258040
NM_001258042
NM_001258041
NM_001289094
NM_002109
c.T225A
c.T225A
c.T345A
c.T258A
c.T345A
p.Y75X
p.Y75X
p.Y115X
p.Y86X
p.Y115X
24.48.242E-6Ruzzo2019 G
HARS     mAGRE2343chr5:
140059424-140059424
ATexonicMaternalstopgainNM_001258040
NM_001258042
NM_001258041
NM_001289094
NM_002109
c.T225A
c.T225A
c.T345A
c.T258A
c.T345A
p.Y75X
p.Y75X
p.Y115X
p.Y86X
p.Y115X
24.48.242E-6Cirnigliaro2023 G
HARS     MSSNG00032-003chr5:
140066814-140066815
TATintronicDe novo--Trost2022 G
HARS     mAGRE6181chr5:
140053904-140053904
GAexonicMaternalstopgainNM_001289093
NM_001289092
NM_001258040
NM_001258042
NM_001258041
NM_001289094
NM_002109
c.C1126T
c.C1246T
c.C1348T
c.C1288T
c.C1408T
c.C1381T
c.C1468T
p.R376X
p.R416X
p.R450X
p.R430X
p.R470X
p.R461X
p.R490X
51.0-Cirnigliaro2023 G
HARS     152998chr5:
140062656-140062656
CTintronicDe novo--Satterstrom2020 E
Trost2022 G
HARS     1-0144-005chr5:
140058177-140058177
CGintronicDe novo--Trost2022 G
HARS     1-1011-003chr5:
140065939-140065939
CTintronicDe novo--Trost2022 G
HARS     SP0160919chr5:
140057333-140057333
GAexonicDe novosynonymous SNVNM_001289093
NM_001289092
NM_001258040
NM_001258042
NM_001258041
NM_001289094
NM_002109
c.C294T
c.C414T
c.C516T
c.C456T
c.C576T
c.C549T
c.C636T
p.N98N
p.N138N
p.N172N
p.N152N
p.N192N
p.N183N
p.N212N
-1.648E-5Trost2022 G
HARS     PN400260chr5:
140057509-140057509
CTexonicUnknownnonsynonymous SNVNM_001289093
NM_001289092
NM_001258040
NM_001258042
NM_001258041
NM_001289094
NM_002109
c.G272A
c.G392A
c.G494A
c.G434A
c.G554A
c.G527A
c.G614A
p.G91D
p.G131D
p.G165D
p.G145D
p.G185D
p.G176D
p.G205D
34.00.0026Leblond2019 E
HARS     111289chr5:
140062767-140062767
CTexonicnonsynonymous SNVNM_001258041
NM_001289092
NM_001289094
NM_002109
c.G218A
c.G218A
c.G131A
c.G218A
p.R73H
p.R73H
p.R44H
p.R73H
35.02.471E-5Woodbury-Smith2022 E
HARS     1-0144-005chr5:
140058168-140058168
GAintronicDe novo--Trost2022 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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