Variant Results

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Results for "LMTK2"

Variant Events: 14

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

LMTK2

1-0460-003

chr7:
97822154-97822154

G

A

exonic

De novo

nonsynonymous SNV

NM_014916

c.G2377A

p.D793N

11.12

Yuen2017 G

LMTK2

SJD_50

chr7:
97821294-97821294

C

T

exonic

Maternal

nonsynonymous SNV

NM_014916

c.C1517T

p.P506L

21.5

-

Toma2013 E

LMTK2

AU3175303

chr7:
97832983-97832983

G

A

exonic

De novo

nonsynonymous SNV

NM_014916

c.G4205A

p.R1402K

19.53

-

Yuen2017 G

LMTK2

EGAN00001101185

chr7:
97823554-97823554

G

A

exonic

De novo

synonymous SNV

NM_014916

c.G3777A

p.P1259P

-

Satterstrom2020 E

LMTK2

SSC03637

chr7:
97821505-97821505

G

A

exonic

De novo

nonsynonymous SNV

NM_014916

c.G1728A

p.M576I

12.35

-

Lim2017 E

LMTK2

2-1241-003

chr7:
97800555-97800555

A

G

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

LMTK2

1-0401-003

chr7:
97738679-97738679

T

C

intronic

De novo

-

-

Yuen2017 G

LMTK2

7-0127-003

chr7:
97769417-97769417

T

TC

intronic

De novo

-

-

Yuen2017 G

LMTK2

1-0570-003

chr7:
97751820-97751827

CCTCTTCT

CCT

intronic

De novo

-

-

Yuen2017 G

LMTK2

2-1350-004

chr7:
97787947-97787947

T

TAAAAAA

intronic

De novo

-

-

Yuen2017 G

LMTK2

2-1350-003

chr7:
97787947-97787947

T

TAAAAAA

intronic

De novo

-

-

Yuen2017 G

LMTK2

5-0123-003

chr7:
97772853-97772853

A

G

intronic

De novo

-

-

Yuen2017 G

LMTK2

AU3371305

chr7:
97768603-97768603

T

G

intronic

De novo

-

-

Yuen2017 G

LMTK2

AU138A

chr7:
97816289-97816289

A

G

exonic

De novo

nonsynonymous SNV

NM_014916

c.A977G

p.Q326R

22.4

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

Source Variant Information

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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
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