Variant Results

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Results for "LIMK1"

Variant Events: 13

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

LIMK1

37047

chr7:
73513559-73513559

G

A

exonic

De novo

nonsynonymous SNV

NM_001204426
NM_002314

c.G497A
c.G599A

p.R166H
p.R200H

35.0

-

Fu2022 E
Trost2022 G

LIMK1

11277.p1

chr7:
73507610-73507610

C

T

exonic

nonsynonymous SNV

NM_001204426

c.C31T

p.R11C

10.19

-

Zhou2022 GE

LIMK1

DEASD_3002_001

chr7:
73522255-73522255

G

A

exonic

De novo

nonsynonymous SNV

NM_001204426
NM_002314

c.G1018A
c.G1120A

p.D340N
p.D374N

24.3

-

Fu2022 E

LIMK1

AU2293302

chr7:
73567548-73567548

G

C

intergenic

De novo

-

-

Yuen2017 G

LIMK1

Lim2017:37047

chr7:
73513559-73513559

G

A

exonic

De novo

nonsynonymous SNV

NM_001204426
NM_002314

c.G497A
c.G599A

p.R166H
p.R200H

35.0

-

Lim2017 E

LIMK1

1-0209-003

chr7:
73532996-73532996

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

LIMK1

2-1207-003

Complex Event; expand row to view variants

De novo

-

-

Yuen2016 G
Yuen2017 G

LIMK1

SP0012767

chr7:
73513421-73513421

C

A

exonic

De novo

nonsynonymous SNV

NM_001204426
NM_002314

c.C359A
c.C461A

p.S120Y
p.S154Y

23.6

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LIMK1

1-0446-003

chr7:
73566623-73566625

CCT

C

intergenic

De novo

-

-

Yuen2017 G

LIMK1

MSSNG00428-003

chr7:
73511760-73511760

C

T

intronic

De novo

-

-

Trost2022 G

LIMK1

SP0348493

chr7:
73520450-73520450

C

A

exonic

nonsynonymous SNV

NM_001204426
NM_002314

c.C656A
c.C758A

p.T219N
p.T253N

22.0

-

Zhou2022 GE

LIMK1

14629.p1

chr7:
73513559-73513559

G

A

exonic

De novo

nonsynonymous SNV

NM_001204426
NM_002314

c.G497A
c.G599A

p.R166H
p.R200H

35.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Turner2017 G
Wilfert2021 G
Zhou2022 GE

LIMK1

AU3713302

chr7:
73513518-73513518

C

T

exonic

De novo

synonymous SNV

NM_001204426
NM_002314

c.C456T
c.C558T

p.H152H
p.H186H

-

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

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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