Variant Results

or

Results for "LARS2"

Variant Events: 38

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

LARS2

PN400554

chr3:
45500351-45500351

G

C

exonic

Unknown

nonsynonymous SNV

NM_015340

c.G723C

p.W241C

24.7

-

Leblond2019 E

LARS2

REACH000727

chr3:
45542071-45542071

G

GGTA

exonic

De novo

stopgain

NM_015340

c.1760_1761insGTA

p.R587delinsRX

-

Trost2022 G
Zhou2022 GE

LARS2

2-0225-004

chr3:
45504677-45504677

G

GA

intronic

De novo

-

Trost2022 G
Yuen2017 G

LARS2

PN400372

chr3:
45500351-45500351

G

C

exonic

Unknown

nonsynonymous SNV

NM_015340

c.G723C

p.W241C

24.7

-

Leblond2019 E

LARS2

PN400554

chr3:
45500348-45500348

A

AC

exonic

Unknown

frameshift insertion

NM_015340

c.720_721insC

p.Q240fs

-

Leblond2019 E

LARS2

Cukier2014:17545

chr3:
45518073-45518073

C

A

exonic

Unknown

nonsynonymous SNV

NM_015340

c.C972A

p.H324Q

7.948

0.0223

Cukier2014 E

LARS2

AU2427301

chr3:
45454725-45454725

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LARS2

PN400371

chr3:
45500351-45500351

G

C

exonic

Unknown

nonsynonymous SNV

NM_015340

c.G723C

p.W241C

24.7

-

Leblond2019 E

LARS2

PN400371

chr3:
45500348-45500348

A

AC

exonic

Unknown

frameshift insertion

NM_015340

c.720_721insC

p.Q240fs

-

Leblond2019 E

LARS2

1-0173-004

chr3:
45496763-45496763

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LARS2

MT_14.3

chr3:
45471998-45471998

T

C

intronic

De novo

-

Trost2022 G

LARS2

1-0025-006

chr3:
45618104-45618104

T

C

intergenic

De novo

-

Yuen2017 G

LARS2

MSSNG00083-003

chr3:
45478296-45478296

A

AG

intronic

De novo

-

Trost2022 G

LARS2

PN400499

chr3:
45500351-45500351

G

C

exonic

Unknown

nonsynonymous SNV

NM_015340

c.G723C

p.W241C

24.7

-

Leblond2019 E

LARS2

PN400499

chr3:
45500348-45500348

A

AC

exonic

Unknown

frameshift insertion

NM_015340

c.720_721insC

p.Q240fs

-

Leblond2019 E

LARS2

REACH000327

chr3:
45470000-45470000

G

T

intronic

De novo

-

Trost2022 G

LARS2

1-1000-003A

chr3:
45563179-45563179

T

A

intronic

De novo

-

Trost2022 G

LARS2

1-0633-003

chr3:
45574394-45574394

A

G

intronic

De novo

-

Trost2022 G

LARS2

1-1000-003

chr3:
45563179-45563179

T

A

intronic

De novo

-

Yuen2017 G

LARS2

MSSNG00055-003

chr3:
45560373-45560373

T

A

intronic

De novo

-

Trost2022 G

LARS2

PN400503

chr3:
45537795-45537795

G

A

exonic

Unknown

nonsynonymous SNV

NM_015340

c.G1552A

p.D518N

34.0

0.0037

Leblond2019 E

LARS2

MSSNG00028-004

chr3:
45496006-45496006

G

T

intronic

De novo

-

Trost2022 G

LARS2

4-0062-003

chr3:
45480570-45480572

CTA

GTC

intronic

De novo

-

Trost2022 G

LARS2

MSSNG00334-003

chr3:
45482342-45482342

C

T

intronic

De novo

-

Trost2022 G

LARS2

1-0382-003

chr3:
45594977-45594977

A

G

intergenic

De novo

-

Yuen2017 G

LARS2

2-1382-003

chr3:
45634534-45634534

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LARS2

PN400457

chr3:
45537795-45537795

G

A

exonic

Unknown

nonsynonymous SNV

NM_015340

c.G1552A

p.D518N

34.0

0.0037

Leblond2019 E

LARS2

AU051503

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

LARS2

REACH000569

chr3:
45591153-45591153

A

G

downstream

De novo

-

Trost2022 G

LARS2

PN400470

chr3:
45500351-45500351

G

C

exonic

Unknown

nonsynonymous SNV

NM_015340

c.G723C

p.W241C

24.7

-

Leblond2019 E

LARS2

7-0095-004

chr3:
45514172-45514172

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LARS2

PN400470

chr3:
45500348-45500348

A

AC

exonic

Unknown

frameshift insertion

NM_015340

c.720_721insC

p.Q240fs

-

Leblond2019 E

LARS2

AU073006

chr3:
45490811-45490811

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LARS2

AU4015302

chr3:
45628746-45628746

G

A

intergenic

De novo

-

Yuen2017 G

LARS2

2-0297-003

chr3:
45443104-45443104

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

LARS2

Kim2020:B1

chr3:
45554679-45554679

C

T

exonic

De novo

nonsynonymous SNV

NM_015340

c.C1813T

p.R605C

20.8

2.0E-4

Kim2020 E

LARS2

AU056005

chr3:
45492800-45492800

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LARS2

PN400372

chr3:
45500348-45500348

A

AC

exonic

Unknown

frameshift insertion

NM_015340

c.720_721insC

p.Q240fs

-

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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