Variant Results

or

or

Results for "LAMA4"

Variant Events: 20

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

LAMA4

AU4129303

chr6:
112444128-112444128

G

A

intronic

De novo

-

-

Yuen2017 G

LAMA4

AU2019302

chr6:
112502493-112502493

C

T

intronic

De novo

-

-

Yuen2017 G

LAMA4

3-0661-000

chr6:
112516472-112516472

T

C

intronic

De novo

-

-

Yuen2017 G

LAMA4

SP0043581

chr6:
112462089-112462089

G

A

exonic

De novo

nonsynonymous SNV

NM_001105206
NM_001105207
NM_002290

c.C2849T
c.C2828T
c.C2828T

p.P950L
p.P943L
p.P943L

25.6

Feliciano2019 E

LAMA4

SP0002974

chr6:
112508688-112508688

G

A

exonic

De novo

synonymous SNV

NM_001105206
NM_001105207
NM_002290

c.C930T
c.C909T
c.C909T

p.H310H
p.H303H
p.H303H

4.654

-

Feliciano2019 E

LAMA4

AU1988301

chr6:
112523428-112523428

C

T

intronic

De novo

-

-

Yuen2017 G

LAMA4

AU1988301

chr6:
112528477-112528477

G

C

intronic

De novo

-

-

Yuen2017 G

LAMA4

SSC09344

chr6:
112537598-112537598

C

T

exonic

De novo

nonsynonymous SNV

NM_001105206
NM_001105207
NM_002290

c.G268A
c.G268A
c.G268A

p.E90K
p.E90K
p.E90K

11.2

Lim2017 E

LAMA4

12224.p1

chr6:
112508841-112508841

A

T

intronic

De novo

-

-

Satterstrom2020 E

LAMA4

iHART2070

chr6:
112462593-112462593

C

T

exonic

Paternal

stopgain

NM_001105206
NM_001105207
NM_002290

c.G2780A
c.G2759A
c.G2759A

p.W927X
p.W920X
p.W920X

44.0

-

Ruzzo2019 G

LAMA4

AU1988301

chr6:
112533086-112533086

T

C

intronic

De novo

-

-

Yuen2017 G

LAMA4

iHART1403

chr6:
112454089-112454090

AT

A

exonic

Paternal

frameshift deletion

NM_001105206
NM_001105207
NM_002290

c.3699delA
c.3678delA
c.3678delA

p.I1233fs
p.I1226fs
p.I1226fs

-

-

Ruzzo2019 G

LAMA4

iHART2072

chr6:
112462593-112462593

C

T

exonic

Paternal

stopgain

NM_001105206
NM_001105207
NM_002290

c.G2780A
c.G2759A
c.G2759A

p.W927X
p.W920X
p.W920X

44.0

-

Ruzzo2019 G

LAMA4

iHART2071

chr6:
112462593-112462593

C

T

exonic

Paternal

stopgain

NM_001105206
NM_001105207
NM_002290

c.G2780A
c.G2759A
c.G2759A

p.W927X
p.W920X
p.W920X

44.0

-

Ruzzo2019 G

LAMA4

13873.p1

chr6:
112537598-112537598

C

T

exonic

De novo

nonsynonymous SNV

NM_001105206
NM_001105207
NM_002290

c.G268A
c.G268A
c.G268A

p.E90K
p.E90K
p.E90K

11.2

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E

LAMA4

2-1507-003

chr6:
112544790-112544790

A

T

intronic

De novo

-

-

Yuen2017 G

LAMA4

1-0329-004

chr6:
112430853-112430853

G

GT

intronic

De novo

-

-

Yuen2017 G

LAMA4

1-0606-003

chr6:
112499167-112499167

T

A

intronic

De novo

-

-

Yuen2017 G

LAMA4

2-1719-003

chr6:
112531136-112531136

G

A

intronic

De novo

-

-

Yuen2017 G

LAMA4

G01-GEA-76-HI

chr6:
112450092-112450092

A

C

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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