Variant Results

or

Results for "LTK"

Variant Events: 11

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

LTK

mAGRE5369

chr15:
41804069-41804069

C

CGACCCCGG

exonic

Paternal

frameshift insertion

NM_001135685
NM_002344
NM_206961

c.602_603insCCGGGGTC
c.602_603insCCGGGGTC
c.602_603insCCGGGGTC

p.S201fs
p.S201fs
p.S201fs

-

Cirnigliaro2023 G

LTK

mAGRE2768

chr15:
41799363-41799363

C

CA

exonic

Paternal

frameshift insertion

NM_001135685
NM_206961
NM_002344

c.1171dupT
c.1287dupT
c.1470dupT

p.W391fs
p.G430fs
p.G491fs

-

Cirnigliaro2023 G

LTK

Lim2017:36050

chr15:
41801298-41801298

A

G

exonic

De novo

nonsynonymous SNV

NM_001135685
NM_206961
NM_002344

c.T844C
c.T844C
c.T1027C

p.W282R
p.W282R
p.W343R

14.5

-

Lim2017 E

LTK

SP0062134

chr15:
41799673-41799673

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G

LTK

SP0103392

chr15:
41797120-41797120

G

A

intronic

De novo

-

3.462E-5

Fu2022 E
Trost2022 G

LTK

ASC_132758

chr15:
41796311-41796311

C

T

exonic

De novo

synonymous SNV

NM_001135685
NM_206961
NM_002344

c.G2088A
c.G2295A
c.G2478A

p.E696E
p.E765E
p.E826E

-

Fu2022 E

LTK

AU111A

chr15:
41796800-41796800

C

T

exonic

De novo

nonsynonymous SNV

NM_001135685
NM_206961
NM_002344

c.G1769A
c.G1976A
c.G2159A

p.G590D
p.G659D
p.G720D

22.2

1.0E-4

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

LTK

36050

chr15:
41801298-41801298

A

G

exonic

De novo

nonsynonymous SNV

NM_001135685
NM_206961
NM_002344

c.T844C
c.T844C
c.T1027C

p.W282R
p.W282R
p.W343R

14.5

-

Fu2022 E
Trost2022 G

LTK

14243.p1

chr15:
41801298-41801298

A

G

exonic

De novo

nonsynonymous SNV

NM_001135685
NM_206961
NM_002344

c.T844C
c.T844C
c.T1027C

p.W282R
p.W282R
p.W343R

14.5

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

LTK

SP0017225

chr15:
41804459-41804459

A

G

exonic

De novo

nonsynonymous SNV

NM_001135685
NM_002344
NM_206961

c.T364C
c.T364C
c.T364C

p.S122P
p.S122P
p.S122P

26.7

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LTK

iHART2768

chr15:
41799363-41799363

C

CA

exonic

Paternal

frameshift insertion

NM_001135685
NM_206961
NM_002344

c.1171dupT
c.1287dupT
c.1470dupT

p.W391fs
p.G430fs
p.G491fs

-

Ruzzo2019 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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