Variant Results

or

Results for "LMNTD1"

Variant Events: 32

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

LMNTD1

11089.p1

chr12:
25775869-25775869

C

T

intronic

De novo

-

Turner2016 G

LMNTD1

11089.p1

chr12:
25775871-25775871

G

T

intronic

De novo

-

Turner2016 G

LMNTD1

2-1245-003

chr12:
25883693-25883697

CAAAA

CAA

intergenic

De novo

-

Yuen2017 G

LMNTD1

1-0604-003

chr12:
25774034-25774034

A

C

intronic

De novo

-

Yuen2017 G

LMNTD1

1-0985-003

chr12:
25963279-25963279

C

T

intergenic

De novo

-

Yuen2017 G

LMNTD1

1-0526-003

chr12:
25890496-25890496

C

T

intergenic

De novo

-

Yuen2017 G

LMNTD1

iHART2633

chr12:
25672910-25672910

G

A

exonic

Maternal

stopgain

NM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266

c.C646T
c.C778T
c.C835T
c.C898T
c.C544T

p.R216X
p.R260X
p.R279X
p.R300X
p.R182X

19.99

8.244E-6

Ruzzo2019 G

LMNTD1

2-0219-004

chr12:
25681435-25681435

T

C

intronic

De novo

-

Yuen2017 G

LMNTD1

2-1338-003

chr12:
25667148-25667148

C

A

intronic

De novo

-

Yuen2017 G

LMNTD1

2-1318-004

chr12:
25807682-25807682

G

C

intergenic

De novo

-

Yuen2017 G

LMNTD1

1-0041-003

chr12:
25694729-25694729

T

C

intronic

De novo

-

Yuen2017 G

LMNTD1

2-1212-003

Complex Event; expand row to view variants

De novo

-

Yuen2017 G
Yuen2017 G

LMNTD1

AU1988302

chr12:
25966412-25966412

G

A

intergenic

De novo

-

Yuen2017 G

LMNTD1

2-1425-003

chr12:
25805865-25805865

G

A

intergenic

De novo

-

Yuen2017 G

LMNTD1

AU3692302

chr12:
25853637-25853637

A

T

intergenic

De novo

-

Yuen2017 G

LMNTD1

iHART2630

chr12:
25672910-25672910

G

A

exonic

Maternal

stopgain

NM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266

c.C646T
c.C778T
c.C835T
c.C898T
c.C544T

p.R216X
p.R260X
p.R279X
p.R300X
p.R182X

19.99

8.244E-6

Ruzzo2019 G

LMNTD1

AU4496301

chr12:
25761095-25761095

G

GCC

intronic

De novo

-

Yuen2017 G

LMNTD1

5-0083-003

chr12:
25658038-25658038

C

A

intronic

De novo

-

Yuen2017 G

LMNTD1

AU3912303

chr12:
25689941-25689942

GC

G

intronic

De novo

-

Yuen2017 G

LMNTD1

G01-GEA-101-HI

chr12:
25672804-25672804

A

T

exonic

De novo

nonsynonymous SNV

NM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266

c.T752A
c.T884A
c.T941A
c.T1004A
c.T650A

p.V251D
p.V295D
p.V314D
p.V335D
p.V217D

11.15

-

Satterstrom2020 E

LMNTD1

AU2787302

chr12:
25901231-25901231

T

A

intergenic

De novo

-

Yuen2017 G

LMNTD1

AU3635301

chr12:
25933375-25933375

G

A

intergenic

De novo

-

Yuen2017 G

LMNTD1

A3

chr12:
25702439-25702439

G

GG

exonic

De novo

frameshift insertion

NM_152590
NM_001145728
NM_001145729

c.68dupC
c.131dupC
c.131dupC

p.S23fs
p.S44fs
p.S44fs

-

Wu2018 G

LMNTD1

A29

chr12:
25756136-25756136

T

C

intronic

De novo

-

Wu2018 G

LMNTD1

A18

chr12:
25656720-25656721

TC

T

exonic

De novo

frameshift deletion

NM_001145727
NM_001145729
NM_152590
NM_001145728
NM_001256266

c.951delG
c.1083delG
c.1140delG
c.1203delG
c.849delG

p.K317fs
p.K361fs
p.K380fs
p.K401fs
p.K283fs

-

Wu2018 G

LMNTD1

14131.p1

chr12:
25735355-25735355

C

T

intronic

De novo

-

Wilfert2021 G

LMNTD1

AU3907302

chr12:
25952541-25952541

C

T

intergenic

De novo

-

Yuen2017 G

LMNTD1

2-1290-003

chr12:
25909461-25909461

C

T

intergenic

De novo

-

Yuen2017 G

LMNTD1

2-1112-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

LMNTD1

7-0104-003

chr12:
26020280-26020280

A

G

intergenic

De novo

-

Yuen2017 G

LMNTD1

1-0972-003

chr12:
25976370-25976370

T

C

intergenic

De novo

-

Yuen2017 G

LMNTD1

AU056804

chr12:
25865156-25865156

C

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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