Variant Results

or

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

iHART2343

chr5:
140059424-140059424

A

T

exonic

Maternal

stopgain

NM_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

24.4

8.242E-6

Ruzzo2019 G

HARS

mAGRE2343

chr5:
140059424-140059424

A

T

exonic

Maternal

stopgain

NM_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

24.4

8.242E-6

Cirnigliaro2023 G

HARS

mAGRE6181

chr5:
140053904-140053904

G

A

exonic

Maternal

stopgain

NM_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

152998

chr5:
140062656-140062656

C

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

HARS

SP0160919

chr5:
140057333-140057333

G

A

exonic

De novo

synonymous SNV

NM_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-5

Trost2022 G

HARS

111289

chr5:
140062767-140062767

C

T

exonic

nonsynonymous SNV

NM_001258041
NM_001289092
NM_001289094
NM_002109

c.G218A
c.G218A
c.G131A
c.G218A

p.R73H
p.R73H
p.R44H
p.R73H

35.0

2.471E-5

Woodbury-Smith2022 E

HARS

1-0144-005

chr5:
140058168-140058168

G

A

intronic

De novo

-

Trost2022 G

HARS

MSSNG00032-003

chr5:
140066814-140066815

TA

T

intronic

De novo

-

Trost2022 G

HARS

1-0144-005

chr5:
140058177-140058177

C

G

intronic

De novo

-

Trost2022 G

HARS

1-1011-003

chr5:
140065939-140065939

C

T

intronic

De novo

-

Trost2022 G

HARS

PN400260

chr5:
140057509-140057509

C

T

exonic

Unknown

nonsynonymous SNV

NM_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

34.0

0.0026

Leblond2019 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	View
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