Variant Results

or

Results for "LAMA2"

Variant Events: 48

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

LAMA2

1-0490-003

chr6:
129354755-129354755

G

T

intronic

De novo

-

Yuen2017 G

LAMA2

SP0052828

chr6:
129588294-129588294

G

A

exonic

De novo

nonsynonymous SNV

NM_000426
NM_001079823

c.G2252A
c.G2252A

p.G751D
p.G751D

20.2

-

Fu2022 E

LAMA2

2-1345-003

chr6:
129358962-129358962

T

C

intronic

De novo

-

Yuen2017 G

LAMA2

SP0055139

chr6:
129419388-129419388

G

A

exonic

De novo

nonsynonymous SNV

NM_000426
NM_001079823

c.G467A
c.G467A

p.R156H
p.R156H

24.8

3.295E-5

Fu2022 E

LAMA2

Li2017:23269

chr6:
129475829-129475829

G

A

splicing

Unknown

splicing

24.0

-

Li2017 T

LAMA2

1-0591-003

chr6:
129329947-129329947

T

C

intronic

De novo

-

Yuen2017 G

LAMA2

SP0006295

chr6:
129837462-129837462

C

T

exonic

De novo

synonymous SNV

NM_001079823
NM_000426

c.C9327T
c.C9339T

p.G3109G
p.G3113G

-

1.652E-5

Fu2022 E

LAMA2

2-1511-003

chr6:
129552856-129552856

T

C

intronic

De novo

-

Yuen2017 G

LAMA2

Cukier2014:17342

chr6:
129513850-129513850

T

A

exonic

Unknown

nonsynonymous SNV

NM_000426
NM_001079823

c.T1634A
c.T1634A

p.L545Q
p.L545Q

21.4

0.0028

Cukier2014 E

LAMA2

1-0636-003

chr6:
129493072-129493072

A

T

intronic

De novo

-

Yuen2017 G

LAMA2

SP0077254

chr6:
129475659-129475659

G

A

exonic

De novo

nonsynonymous SNV

NM_000426
NM_001079823

c.G1037A
c.G1037A

p.C346Y
p.C346Y

25.0

-

Fu2022 E

LAMA2

1-0863-003

chr6:
129800815-129800815

C

T

intronic

De novo

-

Yuen2017 G

LAMA2

160820

chr6:
129722430-129722430

A

G

exonic

De novo

nonsynonymous SNV

NM_000426
NM_001079823

c.A5507G
c.A5507G

p.N1836S
p.N1836S

11.49

1.652E-5

Fu2022 E

LAMA2

1-0454-003

chr6:
129794002-129794002

A

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LAMA2

7-0044-003

chr6:
129404554-129404554

G

T

intronic

De novo

-

Yuen2017 G

LAMA2

SSC08882

chr6:
129828691-129828691

G

A

exonic

De novo

nonsynonymous SNV

NM_001079823
NM_000426

c.G8749A
c.G8761A

p.D2917N
p.D2921N

9.995

2.0E-4

Fu2022 E

LAMA2

AU3866301

chr6:
129573909-129573909

C

T

intronic

De novo

-

Yuen2017 G

LAMA2

7-0143-003

chr6:
129671125-129671125

T

C

intronic

De novo

-

Yuen2017 G

LAMA2

1-0139-005

chr6:
129806666-129806666

A

C

intronic

De novo

-

Yuen2017 G

LAMA2

1-0493-003

chr6:
129399259-129399259

C

T

intronic

De novo

-

Yuen2017 G

LAMA2

1-0640-003

chr6:
129841986-129841986

C

A

intergenic

De novo

-

Yuen2017 G

LAMA2

7-0161-003

chr6:
129647015-129647015

C

T

intronic

De novo

-

Yuen2017 G

LAMA2

AU2123301

chr6:
129674519-129674519

T

A

intronic

De novo

-

Yuen2017 G

LAMA2

AU4468301

chr6:
129486470-129486470

A

T

intronic

De novo

-

Yuen2017 G

LAMA2

iHART1981

chr6:
129649525-129649526

AG

A

exonic

Paternal

frameshift deletion

NM_000426
NM_001079823

c.4280delG
c.4280delG

p.S1427fs
p.S1427fs

-

Ruzzo2019 G

LAMA2

Li2017:20274

chr6:
129837446-129837446

C

A

exonic

Unknown

nonsynonymous SNV

NM_001079823
NM_000426

c.C9311A
c.C9323A

p.A3104D
p.A3108D

25.6

-

Li2017 T

LAMA2

5-0106-003

chr6:
129397396-129397396

T

G

intronic

De novo

-

Yuen2017 G

LAMA2

AU3586303

chr6:
129511578-129511578

A

G

intronic

De novo

-

Yuen2017 G

LAMA2

1-0048-003

chr6:
129704744-129704744

T

A

intronic

De novo

-

Yuen2017 G

LAMA2

13788.p1

chr6:
129828691-129828691

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001079823
NM_000426

c.G8749A
c.G8761A

p.D2917N
p.D2921N

9.995

2.0E-4

Dou2017 E
Iossifov2014 E
Kosmicki2017 E

LAMA2

Li2017:20303

chr6:
129498884-129498884

G

A

exonic

Unknown

nonsynonymous SNV

NM_000426
NM_001079823

c.G1340A
c.G1340A

p.G447D
p.G447D

24.4

-

Li2017 T

LAMA2

2-0129-005

chr6:
129811094-129811101

GACCTATT

G

intronic

De novo

-

Yuen2017 G

LAMA2

AU3154302

chr6:
129364677-129364677

G

A

intronic

De novo

-

Yuen2017 G

LAMA2

AU3765302

chr6:
129880946-129880946

G

C

intergenic

De novo

-

Yuen2017 G

LAMA2

2-1207-003

chr6:
129785640-129785640

G

A

intronic

De novo

-

8.254E-6

Yuen2016 G
Yuen2017 G

LAMA2

11879.p1

chr6:
129612720-129612720

G

A

intronic

De novo

-

Satterstrom2020 E

LAMA2

2-1252-003

chr6:
129870625-129870625

T

C

intergenic

De novo

-

Yuen2017 G

LAMA2

Li2017:15084

chr6:
129722486-129722486

G

T

splicing

Unknown

splicing

13.3

-

Li2017 T

LAMA2

Li2017:17490

chr6:
129833556-129833556

G

A

exonic

Unknown

nonsynonymous SNV

NM_001079823
NM_000426

c.G8894A
c.G8906A

p.R2965H
p.R2969H

24.6

8.247E-6

Li2017 T

LAMA2

2-1231-003

chr6:
129299425-129299425

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

LAMA2

2-1220-003

chr6:
129506567-129506567

A

G

intronic

De novo

-

Yuen2017 G

LAMA2

5-0087-003

chr6:
129480304-129480304

G

T

intronic

De novo

-

Yuen2017 G

LAMA2

AU4056302

chr6:
129311033-129311033

C

T

intronic

De novo

-

Yuen2017 G

LAMA2

AU012804

chr6:
129584127-129584127

C

T

intronic

De novo

-

Yuen2017 G

LAMA2

1-0923-003

chr6:
129315180-129315180

G

A

intronic

De novo

-

Yuen2017 G

LAMA2

08C78418

chr6:
129785640-129785640

G

A

intronic

De novo

-

8.254E-6

Satterstrom2020 E

LAMA2

NDAR_INVWV443KNU_wes1

chr6:
129371158-129371158

G

C

exonic

De novo

nonsynonymous SNV

NM_000426
NM_001079823

c.G208C
c.G208C

p.V70L
p.V70L

34.0

-

Lim2017 E

LAMA2

14220.p1

chr6:
129766764-129766764

G

A

intronic

De novo

-

Satterstrom2020 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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