Variant Results

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Results for "LSG1"

Variant Events: 17

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

LSG1

1-0757-003

chr3:
194366338-194366338

C

G

intronic

De novo

-

-

Trost2022 G

LSG1

MSSNG00016-003

chr3:
194382931-194382931

T

A

intronic

De novo

-

-

Trost2022 G

LSG1

3-0719-001

chr3:
194360700-194360700

C

T

downstream

De novo

-

-

Trost2022 G

LSG1

AU035204

chr3:
194386984-194386987

GTTC

G

exonic

Unknown

nonframeshift deletion

NM_018385

c.379_381del

p.127_127del

-

Chahrour2012 E

LSG1

SP0007776

chr3:
194392876-194392876

C

G

exonic

De novo

nonsynonymous SNV

NM_018385

c.G16C

p.A6P

12.4

Fu2022 E
Trost2022 G
Zhou2022 GE

LSG1

200675506_1082035037

chr3:
194386345-194386345

C

T

exonic

De novo

synonymous SNV

NM_018385

c.G462A

p.L154L

-

-

Fu2022 E

LSG1

1-0394-003

chr3:
194404379-194404379

G

A

intergenic

De novo

-

-

Yuen2017 G

LSG1

SSC06345

chr3:
194373781-194373781

C

T

exonic

De novo

nonsynonymous SNV

NM_018385

c.G850A

p.E284K

11.92

-

Fu2022 E
Trost2022 G

LSG1

mAGRE1925

chr3:
194392834-194392834

G

A

exonic

Maternal

stopgain

NM_018385

c.C58T

p.Q20X

36.0

Cirnigliaro2023 G

LSG1

F10841-1

chr3:
194362952-194362952

C

T

exonic

De novo

nonsynonymous SNV

NM_018385

c.G1822A

p.G608R

27.4

-

Fu2022 E

LSG1

Chen2017:64

chr3:
194386345-194386345

C

T

exonic

De novo

synonymous SNV

NM_018385

c.G462A

p.L154L

-

-

Chen2017 E

LSG1

12907.p1

chr3:
194373781-194373781

C

T

exonic

De novo

nonsynonymous SNV

NM_018385

c.G850A

p.E284K

11.92

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

LSG1

iHART1925

chr3:
194392834-194392834

G

A

exonic

Maternal

stopgain

NM_018385

c.C58T

p.Q20X

36.0

Ruzzo2019 G

LSG1

AU035204

chr3:
194365360-194365360

C

T

exonic

Unknown

nonsynonymous SNV

NM_018385

c.G1739A

p.G580D

1.879

Chahrour2012 E

LSG1

200675506@1082035037

chr3:
194386345-194386345

C

T

exonic

De novo

synonymous SNV

NM_018385

c.G462A

p.L154L

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LSG1

AU2793303

chr3:
194363842-194363842

T

C

intronic

De novo

-

-

Yuen2017 G

LSG1

G01_GEA530HI

chr3:
194392868-194392868

G

A

exonic

De novo

synonymous SNV

NM_018385

c.C24T

p.A8A

-

Fu2022 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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