Variant Results

or

Results for "LMNA"

Variant Events: 24

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

LMNA

74-0075

chr1:
156055317-156055317

A

G

intronic

De novo

-

Michaelson2012 G

LMNA

2-1398-003

chr1:
156058770-156058770

G

GGGCCCGTTCTTTTTTTCTTCTTCTTCT

intronic

De novo

-

Trost2022 G

LMNA

1-0539-003

chr1:
156058770-156058770

G

GGGCCCGTTCTTTTTTTCTTCTTCTTCT

intronic

De novo

-

Trost2022 G

LMNA

2-1493-003

chr1:
156058939-156058942

TGTA

GGGCCCGTTCTTTTTTTCTTCTTCTTCTTTTCTTTCTTT

intronic

De novo

-

Trost2022 G

LMNA

2-1398-003

chr1:
156058782-156058782

A

T

intronic

De novo

-

Trost2022 G

LMNA

2-1093-003

chr1:
156058642-156058642

A

T

intronic

De novo

-

Trost2022 G

LMNA

2-1093-003

chr1:
156058633-156058633

T

C

intronic

De novo

-

Trost2022 G

LMNA

A13

chr1:
156053306-156053306

A

G

intronic

De novo

-

Wu2018 G

LMNA

2-1398-003

chr1:
156058764-156058764

T

GCAG

intronic

De novo

-

Trost2022 G

LMNA

2-1093-003

chr1:
156058650-156058650

A

G

intronic

De novo

-

Trost2022 G

LMNA

AU075703

chr1:
156094143-156094143

G

A

intronic

De novo

-

Trost2022 G

LMNA

5-5186-003

chr1:
156059196-156059196

C

T

intronic

De novo

-

Trost2022 G

LMNA

2-1398-004

chr1:
156059068-156059068

C

AATGCAGTAT

intronic

De novo

-

Trost2022 G

LMNA

21304-33563

chr1:
156105105-156105105

T

C

splicing

18.77

-

Callaghan2019 G

LMNA

1-0051-005

chr1:
156059068-156059068

C

AGTAT

intronic

De novo

-

Trost2022 G

LMNA

1-0597-003

chr1:
156059068-156059068

C

AGTAT

intronic

De novo

-

Trost2022 G

LMNA

2-0103-003

chr1:
156059068-156059068

C

AGTAT

intronic

De novo

-

Trost2022 G

LMNA

AU3782303

chr1:
156073907-156073907

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LMNA

AU4164301

chr1:
156059349-156059349

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LMNA

NDAR_INVEW902YT9_wes1

chr1:
156105767-156105767

C

T

exonic

De novo

synonymous SNV

NM_001257374
NM_001282626
NM_005572
NM_170707
NM_170708
NM_001282624
NM_001282625

c.C676T
c.C1012T
c.C1012T
c.C1012T
c.C1012T
c.C769T
c.C1012T

p.L226L
p.L338L
p.L338L
p.L338L
p.L338L
p.L257L
p.L338L

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

LMNA

SP0078457

chr1:
156106170-156106170

C

T

exonic

synonymous SNV

NM_001257374
NM_001282626
NM_005572
NM_170707
NM_170708
NM_001282624
NM_001282625

c.C987T
c.C1323T
c.C1323T
c.C1323T
c.C1323T
c.C1080T
c.C1323T

p.A329A
p.A441A
p.A441A
p.A441A
p.A441A
p.A360A
p.A441A

-

Zhou2022 GE

LMNA

SP0045374

chr1:
156104618-156104618

G

A

exonic

nonsynonymous SNV

NM_001257374
NM_001282626
NM_005572
NM_170707
NM_170708
NM_001282624
NM_001282625

c.G326A
c.G662A
c.G662A
c.G662A
c.G662A
c.G419A
c.G662A

p.R109H
p.R221H
p.R221H
p.R221H
p.R221H
p.R140H
p.R221H

27.1

8.252E-6

Zhou2022 GE

LMNA

AU007503

chr1:
156055317-156055317

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

LMNA

AU073005

chr1:
156066647-156066647

G

T

intronic

De novo

-

Trost2022 G
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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