Variant Results

or

Results for "LLGL1"

Variant Events: 12

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

LLGL1

12297.p1

chr17:
18140835-18140835

C

T

exonic

De novo

nonsynonymous SNV

NM_004140

c.C1652T

p.A551V

9.231

2.834E-5

Iossifov2014 E
Kosmicki2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

LLGL1

GM181797

chr17:
18143877-18143877

G

A

intronic

De novo

-

4.619E-5

Fu2022 E

LLGL1

11833-1

chr17:
18137719-18137719

T

TA

exonic

De novo

stopgain

NM_004140

c.848dupA

p.Y283_G284delinsX

-

9.111E-6

Fu2022 E

LLGL1

Cukier2014:17678

chr17:
18145552-18145552

C

A

exonic

Unknown

nonsynonymous SNV

NM_004140

c.C2955A

p.S985R

12.77

2.0E-4

Cukier2014 E

LLGL1

SP0210549

chr17:
18141573-18141573

C

CCTTG

intronic

De novo

-

Trost2022 G

LLGL1

4-0090-003

chr17:
18133463-18133463

G

T

intronic

De novo

-

Trost2022 G

LLGL1

SP0143065

chr17:
18138886-18138886

C

T

intronic

De novo

-

Trost2022 G

LLGL1

SP0056870

chr17:
18144747-18144747

C

T

intronic

De novo

-

Fu2022 E
Trost2022 G

LLGL1

12297_p1

chr17:
18140835-18140835

C

T

exonic

De novo

nonsynonymous SNV

NM_004140

c.C1652T

p.A551V

9.231

2.834E-5

Fu2022 E

LLGL1

SP0009759

chr17:
18135853-18135853

C

T

exonic

De novo

nonsynonymous SNV

NM_004140

c.C224T

p.A75V

12.47

-

Fu2022 E
Trost2022 G
Zhou2022 GE

LLGL1

13857.p1

chr17:
18137939-18137939

G

A

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

LLGL1

Uddin2014:8

chr17:
18140835-18140835

C

T

exonic

De novo

nonsynonymous SNV

NM_004140

c.C1652T

p.A551V

9.231

2.834E-5

Uddin2014 E

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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