Variant Results

or

Results for "LMTK3"

Variant Events: 20

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

LMTK3

13092.p1

Complex Event; expand row to view variants

De novo

stopgain, frameshift insertion

NM_001080434
NM_001080434

c.920_921insCTGACCT
c.919_920insCTGACCT

p.L307_T308delinsLX
p.L307fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

LMTK3

SSC00604

chr19:
49002894-49002894

C

G

exonic

De novo

nonsynonymous SNV

NM_001080434

c.G1519C

p.E507Q

20.5

-

Trost2022 G

LMTK3

7-0254-004

chr19:
49040430-49040440

TTGTAGCGATG

TTG

intergenic

De novo

-

Yuen2017 G

LMTK3

mAGRE5905

chr19:
49001774-49001776

GGC

G

exonic

Maternal

frameshift deletion

NM_001080434

c.2637_2638del

p.K879fs

-

Cirnigliaro2023 G

LMTK3

mAGRE5904

chr19:
49001774-49001776

GGC

G

exonic

Maternal

frameshift deletion

NM_001080434

c.2637_2638del

p.K879fs

-

Cirnigliaro2023 G

LMTK3

SP0275355

chr19:
49002845-49002845

G

GC

exonic

frameshift insertion

NM_001080434

c.1567dupG

p.A523fs

-

Zhou2022 GE

LMTK3

SP0148527

chr19:
48994467-48994467

G

A

exonic

nonsynonymous SNV

NM_001080434

c.C4351T

p.L1451F

15.8

-

Zhou2022 GE

LMTK3

14110.p1

chr19:
49005717-49005717

T

C

exonic

nonsynonymous SNV

NM_001080434

c.A854G

p.H285R

23.4

-

Zhou2022 GE

LMTK3

11641.p1

chr19:
49002894-49002894

C

G

exonic

De novo

nonsynonymous SNV

NM_001080434

c.G1519C

p.E507Q

20.5

-

Satterstrom2020 E
Zhou2022 GE

LMTK3

SP0131889

chr19:
49000853-49000853

G

C

exonic

nonsynonymous SNV

NM_001080434

c.C3560G

p.P1187R

10.62

1.0E-4

Zhou2022 GE

LMTK3

SSC06524

chr19:
49004780-49004780

C

CAGGTCAG

exonic

De novo

stopgain

NM_001080434

c.920_921insCTGACCT

p.L307_T308delinsLX

-

Fu2022 E
Trost2022 G

LMTK3

SP0137393

chr19:
49005723-49005723

A

G

exonic

De novo

nonsynonymous SNV

NM_001080434

c.T848C

p.L283P

23.9

-

Fu2022 E
Zhou2022 GE

LMTK3

ASC_11411-1

chr19:
49002425-49002426

GT

G

exonic

De novo

frameshift deletion

NM_001080434

c.1987delA

p.T663fs

-

Fu2022 E

LMTK3

SP0078088

chr19:
49003148-49003148

C

T

exonic

De novo

nonsynonymous SNV

NM_001080434

c.G1265A

p.R422Q

13.89

8.666E-5

Fu2022 E
Zhou2022 GE

LMTK3

2-0304-004

chr19:
49016530-49016531

TA

T

upstream

De novo

-

Yuen2017 G

LMTK3

SP0138024

chr19:
48996863-48996863

C

T

intronic

De novo

-

Fu2022 E

LMTK3

SP0167704

chr19:
49006182-49006182

A

C

exonic

nonsynonymous SNV

NM_001080434

c.T716G

p.M239R

18.04

-

Zhou2022 GE

LMTK3

JASD_Fam0031

chr19:
48997134-48997134

G

A

exonic

De novo

synonymous SNV

NM_001080434

c.C3996T

p.P1332P

-

Takata2018 E

LMTK3

JASD_Fam0031

chr19:
48997119-48997119

T

A

exonic

De novo

synonymous SNV

NM_001080434

c.A4011T

p.A1337A

-

Takata2018 E

LMTK3

1-0590-003

chr19:
49002675-49002676

GC

G

exonic

De novo

frameshift deletion

NM_001080434

c.1737delG

p.E579fs

-

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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