Variant Results

or

Results for "LAMC3"

Variant Events: 54

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

LAMC3

Stessman2017:ASD_1140

chr9:
133920985-133920985

C

T

exonic

Unknown

nonsynonymous SNV

NM_006059

c.C1457T

p.S486F

27.1

-

Stessman2017 T

LAMC3

11704_p1

chr9:
133952690-133952690

A

G

exonic

De novo

nonsynonymous SNV

NM_006059

c.A3746G

p.Y1249C

10.13

-

Fu2022 E

LAMC3

12345.p1

chr9:
133957598-133957598

A

C

intronic

De novo

-

6.448E-5

Satterstrom2020 E

LAMC3

M10105

Complex Event; expand row to view variants

Unknown

nonsynonymous SNV

NM_006059
NM_006059

c.T743C
c.T743A

p.I248T
p.I248N

26.5

8.237E-6

Stessman2017 T
Stessman2017 T

LAMC3

M12387

chr9:
133944435-133944435

G

A

exonic

Unknown

nonsynonymous SNV

NM_006059

c.G2888A

p.R963Q

18.91

2.487E-5

Stessman2017 T

LAMC3

12326.p1

chr9:
133884669-133884669

G

A

exonic

De novo

nonsynonymous SNV

NM_006059

c.G68A

p.G23D

5.046

-

Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

LAMC3

11666.p1

chr9:
133914290-133914290

A

G

exonic

De novo

nonsynonymous SNV

NM_006059

c.A1016G

p.D339G

19.64

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

LAMC3

11704.p1

chr9:
133952690-133952690

A

G

exonic

De novo

nonsynonymous SNV

NM_006059

c.A3746G

p.Y1249C

10.13

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
O’Roak2012a T
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

LAMC3

2-1363-003

chr9:
133942350-133942350

G

A

exonic

De novo

nonsynonymous SNV

NM_006059

c.G2351A

p.R784Q

14.49

5.891E-5

Jiang2013 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

LAMC3

215-13223-2463

chr9:
133942424-133942424

C

T

exonic

Maternal

stopgain

NM_006059

c.C2425T

p.Q809X

37.0

-

Stessman2017 T

LAMC3

M20699

chr9:
133901944-133901944

G

A

exonic

Paternal

nonsynonymous SNV

NM_006059

c.G646A

p.A216T

35.0

1.0E-4

Guo2018 T
Wang2016 T

LAMC3

M26778

chr9:
133901944-133901944

G

A

exonic

Paternal

nonsynonymous SNV

NM_006059

c.G646A

p.A216T

35.0

1.0E-4

Guo2018 T
Wang2016 T

LAMC3

03C16547

chr9:
133927895-133927895

C

T

exonic

Unknown

stopgain

NM_006059

c.C1648T

p.Q550X

37.0

-

Stessman2017 T

LAMC3

2-0129-005

chr9:
133884226-133884226

A

G

upstream

De novo

-

Trost2022 G

LAMC3

AU062203

chr9:
133927895-133927895

C

T

exonic

Paternal

stopgain

NM_006059

c.C1648T

p.Q550X

37.0

-

Stessman2017 T

LAMC3

M19574

chr9:
133936524-133936524

C

T

exonic

Unknown

nonsynonymous SNV

NM_006059

c.C2261T

p.P754L

24.5

-

Stessman2017 T

LAMC3

2-1322-004

chr9:
133930201-133930201

G

A

intronic

De novo

-

Trost2022 G

LAMC3

GX0316.p1

chr9:
133907543-133907543

G

A

exonic

Paternal

nonsynonymous SNV

NM_006059

c.G790A

p.D264N

33.0

1.648E-5

Guo2018 T

LAMC3

1-1124-003

chr9:
133943034-133943034

A

G

intronic

De novo

-

Trost2022 G

LAMC3

7-0411-003

chr9:
133917649-133917649

A

C

intronic

De novo

-

Trost2022 G

LAMC3

MSSNG00443-003

chr9:
133919967-133919967

G

T

intronic

De novo

-

Trost2022 G

LAMC3

2-1425-004

chr9:
133916388-133916388

G

A

intronic

De novo

-

Trost2022 G

LAMC3

1-0779-003

chr9:
133916912-133916912

G

A

intronic

De novo

-

Trost2022 G

LAMC3

GX0135.p1

chr9:
133901936-133901936

G

A

exonic

Paternal

nonsynonymous SNV

NM_006059

c.G638A

p.R213Q

37.0

5.416E-5

Guo2018 T

LAMC3

SSC04497

chr9:
133884669-133884669

G

A

exonic

De novo

nonsynonymous SNV

NM_006059

c.G68A

p.G23D

5.046

-

Trost2022 G

LAMC3

MSSNG00122-003

chr9:
133914039-133914039

T

C

intronic

De novo

-

Trost2022 G

LAMC3

mAGRE2748

chr9:
133884843-133884844

AC

A

exonic

Paternal

frameshift deletion

NM_006059

c.243delC

p.D81fs

-

Cirnigliaro2023 G

LAMC3

Alvarez-Mora2016:ASD-27

chr9:
133967011-133967011

C

T

exonic

Maternal

nonsynonymous SNV

NM_006059

c.C4565T

p.P1522L

10.79

1.0E-4

Alvarez-Mora2016 T

LAMC3

2-1179-003

chr9:
133947143-133947143

C

A

intronic

De novo

-

Trost2022 G

LAMC3

SSC04397

chr9:
133957598-133957598

A

C

intronic

De novo

-

6.448E-5

Trost2022 G

LAMC3

Alvarez-Mora2016:ASD-51

chr9:
133952638-133952638

G

A

exonic

Maternal

nonsynonymous SNV

NM_006059

c.G3694A

p.A1232T

16.47

-

Alvarez-Mora2016 T

LAMC3

Alvarez-Mora2016:ASD-40

chr9:
133945082-133945082

G

A

exonic

Unknown

nonsynonymous SNV

NM_006059

c.G2914A

p.A972T

11.4

1.656E-5

Alvarez-Mora2016 T

LAMC3

mAGRE1312

chr9:
133942593-133942593

G

A

splicing

Maternal

splicing

14.67

5.778E-5

Cirnigliaro2023 G

LAMC3

mAGRE2033

chr9:
133928273-133928273

G

GC

exonic

Maternal

frameshift insertion

NM_006059

c.1861dupC

p.L620fs

-

Cirnigliaro2023 G

LAMC3

11666_p1

chr9:
133914290-133914290

A

G

exonic

De novo

nonsynonymous SNV

NM_006059

c.A1016G

p.D339G

19.64

-

Fu2022 E

LAMC3

iHART2748

chr9:
133884843-133884844

AC

A

exonic

Paternal

frameshift deletion

NM_006059

c.243delC

p.D81fs

-

Ruzzo2019 G

LAMC3

05C43428

chr9:
133914592-133914592

C

T

exonic

Unknown

nonsynonymous SNV

NM_006059

c.C1240T

p.R414C

19.32

2.493E-5

Stessman2017 T

LAMC3

2-1246-003

chr9:
133901525-133901525

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LAMC3

AU1377302

chr9:
133914319-133914319

G

A

exonic

Paternal

nonsynonymous SNV

NM_006059

c.G1045A

p.G349S

35.0

-

Stessman2017 T

LAMC3

217-14404-5130

chr9:
133936520-133936520

C

T

exonic

Paternal

stopgain

NM_006059

c.C2257T

p.Q753X

39.0

-

Stessman2017 T

LAMC3

AU1390302

chr9:
133914592-133914592

C

T

exonic

Unknown

nonsynonymous SNV

NM_006059

c.C1240T

p.R414C

19.32

2.493E-5

Stessman2017 T

LAMC3

iHART1312

chr9:
133942593-133942593

G

A

splicing

Maternal

splicing

14.67

5.778E-5

Ruzzo2019 G

LAMC3

SP0073589

chr9:
133943489-133943489

C

T

exonic

De novo

nonsynonymous SNV

NM_006059

c.C2618T

p.S873L

23.4

3.328E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

LAMC3

M23747

chr9:
133932465-133932465

C

T

exonic

Maternal

stopgain

NM_006059

c.C2089T

p.Q697X

35.0

-

Guo2018 T
Wang2016 T

LAMC3

iHART2033

chr9:
133928273-133928273

G

GC

exonic

Maternal

frameshift insertion

NM_006059

c.1861dupC

p.L620fs

-

Ruzzo2019 G

LAMC3

375759

chr9:
133966993-133967004

GGCTGCAGCTGG

G

exonic

Inherited

frameshift deletion

NM_006059

c.4548_4558del

p.R1516fs

-

Stessman2017 T

LAMC3

396656

chr9:
133945140-133945140

G

A

exonic

Unknown

nonsynonymous SNV

NM_006059

c.G2972A

p.G991D

32.0

-

Stessman2017 T

LAMC3

M17608

chr9:
133927913-133927913

C

T

exonic

Unknown

stopgain

NM_006059

c.C1666T

p.Q556X

37.0

-

Guo2018 T
Wang2016 T

LAMC3

M03553

chr9:
133936541-133936541

C

T

exonic

Unknown

stopgain

NM_006059

c.C2278T

p.Q760X

35.0

1.657E-5

Guo2018 T
Wang2016 T

LAMC3

14316.p1

chr9:
133911720-133911720

G

C

splicing

Paternal

splicing

18.27

1.743E-5

O’Roak2012a T

LAMC3

53480

chr9:
133945236-133945236

A

T

exonic

Unknown

nonsynonymous SNV

NM_006059

c.A3068T

p.E1023V

18.93

-

Stessman2017 T

LAMC3

14144.p1

chr9:
133942353-133942354

GC

G

exonic

Maternal

frameshift deletion

NM_006059

c.2355delC

p.R785fs

-

O’Roak2012a T

LAMC3

11298.p1

chr9:
133954629-133954629

C

T

exonic

Maternal

stopgain

NM_006059

c.C3871T

p.R1291X

43.0

3.379E-5

O’Roak2012a T

LAMC3

14404.p1

chr9:
133932503-133932503

T

A

exonic

Maternal

stopgain

NM_006059

c.T2127A

p.C709X

40.0

8.282E-6

O’Roak2012a T

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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