Variant Results

or

or

Results for "LGMN"

Variant Events: 19

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

LGMN

2-1334-003

chr14:
93212732-93212738

TTTCTTC

TTTC

intronic

De novo

-

-

Yuen2017 G

LGMN

iHART1807

chr14:
93180231-93180231

C

G

splicing

Maternal

splicing

13.11

Ruzzo2019 G

LGMN

SP0117117

chr14:
93170601-93170601

T

C

UTR3

De novo

-

-

Fu2022 E

LGMN

mAGRE1807

chr14:
93180231-93180231

C

G

splicing

Maternal

splicing

13.11

Cirnigliaro2023 G

LGMN

2-1763-003

chr14:
93185690-93185690

C

A

intronic

De novo

-

-

Trost2022 G

LGMN

1-0300-004

chr14:
93217707-93217707

A

G

intergenic

De novo

-

-

Yuen2017 G

LGMN

1-0731-003

chr14:
93206434-93206434

A

T

intronic

De novo

-

-

Trost2022 G

LGMN

3-0708-000

chr14:
93183007-93183008

TC

AA

intronic

De novo

-

-

Trost2022 G

LGMN

3-0221-000

chr14:
93183007-93183008

TC

AA

intronic

De novo

-

-

Trost2022 G

LGMN

1-1184-003

chr14:
93177341-93177341

C

T

intronic

De novo

-

-

Trost2022 G

LGMN

3-0134-001

chr14:
93183007-93183008

TC

AA

intronic

De novo

-

-

Trost2022 G

LGMN

13922.p1

chr14:
93170685-93170685

G

A

exonic

Mosaic

synonymous SNV

NM_005606
NM_001008530

c.C1281T
c.C1281T

p.H427H
p.H427H

14.35

Dou2017 E
Krupp2017 E

LGMN

7-0287-003

chr14:
93215448-93215448

G

A

upstream

De novo

-

-

Trost2022 G

LGMN

1-0627-006

chr14:
93200747-93200747

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LGMN

MSSNG00123-003

chr14:
93214418-93214418

G

A

intronic

De novo

-

-

Trost2022 G

LGMN

REACH000171

chr14:
93214978-93214978

G

A

UTR5

De novo

-

-

Trost2022 G

LGMN

1-0976-003

chr14:
93196910-93196910

T

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LGMN

1-0731-003

chr14:
93206439-93206439

C

CA

intronic

De novo

-

-

Trost2022 G

LGMN

1-0616-003

chr14:
93209529-93209529

A

AT

intronic

De novo

-

-

Trost2022 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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