Variant Results

or

or

Results for "LAMC1"

Variant Events: 25

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

LAMC1

35842

chr1:
183086530-183086530

T

C

exonic

De novo

nonsynonymous SNV

NM_002293

c.T1640C

p.I547T

14.34

Fu2022 E

LAMC1

5-0111-003

chr1:
183144064-183144064

A

G

intergenic

De novo

-

-

Yuen2017 G

LAMC1

2-0256-004

chr1:
183083116-183083116

C

G

intronic

De novo

-

-

Yuen2017 G

LAMC1

AU4239301

chr1:
183012289-183012289

G

A

intronic

De novo

-

-

Yuen2017 G

LAMC1

1-0104-004

chr1:
183143895-183143895

A

G

intergenic

De novo

-

-

Yuen2017 G

LAMC1

1-0593-003

chr1:
183101649-183101649

T

C

exonic

De novo

synonymous SNV

NM_002293

c.T3681C

p.F1227F

-

-

Yuen2017 G

LAMC1

1-0028-003

chr1:
183115533-183115533

T

A

downstream

De novo

-

-

Yuen2017 G

LAMC1

SJD_50

chr1:
183094556-183094556

C

T

exonic

Maternal

nonsynonymous SNV

NM_002293

c.C2672T

p.T891I

28.7

Toma2013 E

LAMC1

SP0036982

chr1:
183093976-183093976

A

C

exonic

De novo

nonsynonymous SNV

NM_002293

c.A2612C

p.N871T

25.6

-

Fu2022 E

LAMC1

5-0061-003

chr1:
183047454-183047454

A

G

intronic

De novo

-

-

Yuen2017 G

LAMC1

2-0198-004

chr1:
183036085-183036085

A

T

intronic

De novo

-

-

Yuen2017 G

LAMC1

08C76266

chr1:
183091331-183091331

T

C

exonic

De novo

synonymous SNV

NM_002293

c.T2346C

p.A782A

-

-

Fu2022 E
Satterstrom2020 E

LAMC1

7-0249-003

chr1:
183151941-183151941

T

A

intergenic

De novo

-

-

Yuen2017 G

LAMC1

1-0126-003

chr1:
183063987-183063988

GT

G

intronic

De novo

-

-

Yuen2017 G

LAMC1

1-0986-003

chr1:
183034050-183034050

C

T

intronic

De novo

-

-

Yuen2017 G

LAMC1

2-1107-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

LAMC1

1-0978-003

chr1:
183098625-183098625

G

A

intronic

De novo

-

-

Yuen2017 G

LAMC1

AU031203

chr1:
183106774-183106774

A

T

intronic

De novo

-

Yuen2017 G

LAMC1

1-0180-004

chr1:
183055124-183055124

T

G

intronic

De novo

-

-

Yuen2017 G

LAMC1

1635002

chr1:
183083645-183083645

C

CAGA

intronic

De novo

-

-

Satterstrom2020 E

LAMC1

A3

chr1:
183077159-183077159

G

A

intronic

De novo

-

-

Wu2018 G

LAMC1

1-0606-003

chr1:
183151043-183151043

C

T

intergenic

De novo

-

-

Yuen2017 G

LAMC1

11189.p1

chr1:
183086530-183086530

T

C

exonic

De novo

nonsynonymous SNV

NM_002293

c.T1640C

p.I547T

14.34

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G

LAMC1

2-0299-003

chr1:
183044701-183044701

C

T

intronic

De novo

-

-

Yuen2017 G

LAMC1

AU056803

chr1:
183118550-183118553

TGTC

T

intergenic

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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