Variant Results

or

or

Results for "LAMA5"

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

LAMA5

12245-1

chr20:
60887479-60887479

C

T

exonic

De novo

nonsynonymous SNV

NM_005560

c.G9337A

p.A3113T

10.26

-

Fu2022 E

LAMA5

505-09-112395

chr20:
60891810-60891810

A

G

exonic

De novo

nonsynonymous SNV

NM_005560

c.T7673C

p.L2558P

13.51

Fu2022 E
Satterstrom2020 E

LAMA5

2-0171-003

chr20:
60888928-60888928

T

C

intronic

De novo

-

-

Yuen2017 G

LAMA5

09C80082

chr20:
60913598-60913598

C

A

exonic

De novo

nonsynonymous SNV

NM_005560

c.G1544T

p.C515F

18.54

-

Fu2022 E
Satterstrom2020 E

LAMA5

SJD_50

chr20:
60902604-60902604

G

A

exonic

Maternal

nonsynonymous SNV

NM_005560

c.C4919T

p.S1640L

17.22

Toma2013 E

LAMA5

1-0253-004

chr20:
60888976-60888978

CGG

C

intronic

De novo

-

-

Yuen2017 G

LAMA5

1-0571-003

chr20:
60941935-60941936

CT

C

intronic

De novo

-

-

Yuen2017 G

LAMA5

AU1542303

chr20:
60888277-60888277

G

A

exonic

De novo

nonsynonymous SNV

NM_005560

c.C8822T

p.T2941M

17.23

-

Yuen2017 G

LAMA5

PN400137

chr20:
60937530-60937530

G

A

exonic

Unknown

nonsynonymous SNV

NM_005560

c.C376T

p.R126C

25.9

Leblond2019 E

LAMA5

11394.p1

chr20:
60895953-60895953

G

A

intronic

Mosaic Mat.

-

-

Dou2017 E

LAMA5

258-07-108397

chr20:
60888134-60888134

C

T

intronic

De novo

-

Satterstrom2020 E

LAMA5

SP0073601

chr20:
60911409-60911409

G

A

exonic

De novo

synonymous SNV

NM_005560

c.C2310T

p.P770P

-

Fu2022 E

LAMA5

ASC_CA_183_A

chr20:
60901874-60901874

C

T

intronic

De novo

-

Satterstrom2020 E

LAMA5

SP0014851

chr20:
60903308-60903308

G

A

exonic

De novo

synonymous SNV

NM_005560

c.C4641T

p.S1547S

-

Fu2022 E

LAMA5

SP0105120

chr20:
60893874-60893874

G

A

intronic

De novo

-

Fu2022 E

LAMA5

SP0140194

chr20:
60885430-60885430

C

T

intronic

De novo

-

-

Fu2022 E

LAMA5

PN400312

chr20:
60937530-60937530

G

A

exonic

Unknown

nonsynonymous SNV

NM_005560

c.C376T

p.R126C

25.9

Leblond2019 E

LAMA5

7-0179-003

chr20:
60900121-60900121

G

A

intronic

De novo

-

-

Yuen2017 G

LAMA5

ASC_CA_123_A

chr20:
60906131-60906131

G

A

exonic

De novo

nonsynonymous SNV

NM_005560

c.C3607T

p.R1203W

13.88

Fu2022 E
Satterstrom2020 E

LAMA5

SP0007707

chr20:
60904215-60904215

G

C

exonic

De novo

nonsynonymous SNV

NM_005560

c.C4214G

p.A1405G

2.266

-

Feliciano2019 E
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
	More