Variant Results

or

Results for "LAMA3"

Variant Events: 37

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

LAMA3

AGG0064

chr18:
21474301-21474301

A

C

exonic

De novo

nonsynonymous SNV

NM_000227
NM_001127718
NM_001127717
NM_198129

c.A623C
c.A623C
c.A5450C
c.A5450C

p.E208A
p.E208A
p.E1817A
p.E1817A

13.72

-

Satterstrom2020 E

LAMA3

AU3779304

chr18:
21548823-21548823

A

C

intergenic

De novo

-

Yuen2017 G

LAMA3

Li2017:16119

chr18:
21492675-21492675

G

T

exonic

Unknown

nonsynonymous SNV

NM_001127718
NM_000227
NM_001127717
NM_198129

c.G2164T
c.G2332T
c.G6991T
c.G7159T

p.V722F
p.V778F
p.V2331F
p.V2387F

22.5

-

Li2017 T

LAMA3

2-1242-003

chr18:
21288284-21288284

C

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LAMA3

2-1389-003

chr18:
21364709-21364709

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LAMA3

A11055-1

chr18:
21453123-21453123

C

T

exonic

Unknown

stopgain

NM_000227
NM_001127718

c.C115T
c.C115T

p.Q39X
p.Q39X

36.0

-

Li2017 T

LAMA3

1-0296-003

chr18:
21287210-21287210

T

C

intronic

De novo

-

Yuen2017 G

LAMA3

2-1317-003

chr18:
21433842-21433842

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LAMA3

2-1258-003

chr18:
21483951-21483951

A

T

exonic

De novo

stopgain

NM_001127718
NM_000227
NM_001127717
NM_198129

c.A1378T
c.A1546T
c.A6205T
c.A6373T

p.K460X
p.K516X
p.K2069X
p.K2125X

48.0

-

Yuen2015 G

LAMA3

AU3881302

chr18:
21387097-21387097

T

G

intronic

De novo

-

Yuen2017 G

LAMA3

AU3903302

chr18:
21431140-21431140

G

T

intronic

De novo

-

Yuen2017 G

LAMA3

2-1182-003

chr18:
21342175-21342175

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LAMA3

AU065304

chr18:
21391486-21391486

A

G

intronic

De novo

-

Yuen2017 G

LAMA3

2-1131-003

chr18:
21488355-21488355

G

A

intronic

De novo

-

Yuen2017 G

LAMA3

2-1408-004

chr18:
21548809-21548809

G

A

intergenic

De novo

-

Yuen2017 G

LAMA3

AU4473301

chr18:
21409068-21409068

A

T

intronic

De novo

-

Yuen2017 G

LAMA3

Li2017:17425

chr18:
21474268-21474268

T

TAA

exonic

Unknown

frameshift insertion

NM_000227
NM_001127718
NM_001127717
NM_198129

c.590_591insAA
c.590_591insAA
c.5417_5418insAA
c.5417_5418insAA

p.I197fs
p.I197fs
p.I1806fs
p.I1806fs

-

Li2017 T

LAMA3

AU3911301

chr18:
21403267-21403271

CCACA

CCACACA

intronic

De novo

-

Yuen2017 G

LAMA3

1-0300-003

chr18:
21413707-21413707

G

A

intronic

De novo

-

Yuen2017 G

LAMA3

iHART1684

chr18:
21419748-21419748

G

A

splicing

Paternal

splicing

22.5

-

Ruzzo2019 G

LAMA3

iHART1685

chr18:
21419748-21419748

G

A

splicing

Paternal

splicing

22.5

-

Ruzzo2019 G

LAMA3

AU013A

chr18:
21395209-21395209

A

G

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E

LAMA3

14518.p1

chr18:
21427428-21427428

C

T

exonic

De novo

nonsynonymous SNV

NM_001127717
NM_198129

c.C3932T
c.C3932T

p.P1311L
p.P1311L

10.84

3.0E-4

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

LAMA3

A4

chr18:
21316000-21316000

C

T

intronic

De novo

-

Wu2018 G

LAMA3

1-0604-003

chr18:
21556452-21556452

C

T

intergenic

De novo

-

Yuen2017 G

LAMA3

Li2017:15042

chr18:
21495339-21495339

C

G

exonic

Unknown

nonsynonymous SNV

NM_001127718
NM_000227
NM_001127717
NM_198129

c.C2736G
c.C2904G
c.C7563G
c.C7731G

p.F912L
p.F968L
p.F2521L
p.F2577L

28.8

8.254E-6

Li2017 T

LAMA3

1-0336-003

chr18:
21458856-21458856

G

A

intronic

De novo

-

Yuen2017 G

LAMA3

iHART1339

chr18:
21426430-21426431

AC

A

exonic

Maternal

frameshift deletion

NM_001127717
NM_198129

c.3890delC
c.3890delC

p.T1297fs
p.T1297fs

-

Ruzzo2019 G

LAMA3

Li2017:17508

chr18:
21508596-21508596

G

A

exonic

Unknown

nonsynonymous SNV

NM_001127718
NM_000227
NM_001127717
NM_198129

c.G3308A
c.G3476A
c.G8135A
c.G8303A

p.R1103Q
p.R1159Q
p.R2712Q
p.R2768Q

26.1

-

Li2017 T

LAMA3

2-1398-004

chr18:
21480290-21480290

C

T

intronic

De novo

-

Yuen2017 G

LAMA3

2-1381-003

chr18:
21412495-21412495

C

T

intronic

De novo

-

Yuen2017 G

LAMA3

3-0447-000

chr18:
21280296-21280296

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LAMA3

A26

chr18:
21461616-21461616

C

T

intronic

De novo

-

Wu2018 G

LAMA3

A9

chr18:
21339789-21339789

G

A

intronic

De novo

-

Wu2018 G

LAMA3

A11

chr18:
21453123-21453123

C

T

exonic

De novo

stopgain

NM_000227
NM_001127718

c.C115T
c.C115T

p.Q39X
p.Q39X

36.0

-

Wu2018 G

LAMA3

SP0004280

chr18:
21331038-21331038

A

G

exonic

De novo

nonsynonymous SNV

NM_001127717
NM_001302996
NM_198129

c.A841G
c.A841G
c.A841G

p.T281A
p.T281A
p.T281A

24.4

8.281E-6

Feliciano2019 E

LAMA3

AU3911302

chr18:
21396062-21396062

G

A

intronic

De novo

-

Yuen2017 G

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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