Variant Results

or

Results for "LYST"

Variant Events: 32

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

LYST

2-1444-003

chr1:
236090792-236090792

G

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

LYST

DEASD_0131_001

chr1:
235915255-235915255

T

A

intronic

De novo

-

Kosmicki2017 E
Satterstrom2020 E
Trost2022 G

LYST

2-1456-004

chr1:
236081835-236081835

A

G

intergenic

De novo

-

Yuen2017 G

LYST

5-0147-003

chr1:
235885716-235885716

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LYST

AU3891303

chr1:
235901479-235901479

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LYST

5-0015-003

chr1:
236058266-236058266

C

T

intergenic

De novo

-

Yuen2017 G

LYST

1-0862-003

chr1:
235981032-235981032

G

GGTGA

intronic

De novo

-

Trost2022 G
Yuen2017 G

LYST

12058.p1

chr1:
235973332-235973332

T

C

exonic

De novo

synonymous SNV

NM_000081
NM_001301365

c.A786G
c.A786G

p.L262L
p.L262L

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

LYST

17.s1

chr1:
235896968-235896968

T

A

exonic

De novo

nonsynonymous SNV

NM_000081
NM_001301365

c.A8636T
c.A8636T

p.K2879I
p.K2879I

22.2

-

An2014 E

LYST

14637.p1

chr1:
236057822-236057822

C

A

intergenic

De novo

-

Turner2016 G

LYST

14637.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

LYST

14637.p1

chr1:
236057820-236057820

C

T

intergenic

De novo

-

Turner2016 G

LYST

1-0706-003

chr1:
236128722-236128722

C

T

intergenic

De novo

-

Yuen2017 G

LYST

AU2950302

chr1:
236011992-236011992

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LYST

14637.p1

Complex Event; expand row to view variants

De novo

-

Turner2016 G
Turner2016 G

LYST

1-0636-003

chr1:
236039994-236039994

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

LYST

1-0864-003

chr1:
235887613-235887613

A

T

intronic

De novo

-

Trost2022 G

LYST

AU1933302

chr1:
235926182-235926182

A

T

intronic

De novo

-

Yuen2017 G

LYST

2-1526-003

chr1:
235900884-235900884

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

LYST

3-0169-000

chr1:
235934659-235934659

C

T

intronic

De novo

-

Trost2022 G
Yuen2016 G

LYST

J4K7A_01

chr1:
236012908-236012908

C

T

intronic

De novo

-

Trost2022 G

LYST

3-0221-000

chr1:
235990260-235990264

GATGT

AAGGA

intronic

De novo

-

Trost2022 G

LYST

SP0065132

chr1:
235971704-235971704

T

TAG

intronic

De novo

-

Fu2022 E

LYST

7-0307-003

chr1:
236031975-236031975

T

C

intronic

De novo

-

Trost2022 G

LYST

AU2688301

chr1:
235961934-235961934

T

C

intronic

De novo

-

Trost2022 G

LYST

MSSNG00395-003

chr1:
235914132-235914132

C

A

intronic

De novo

-

Trost2022 G

LYST

SP0002657

chr1:
235972757-235972757

C

T

exonic

De novo

stopgain

NM_000081
NM_001301365

c.G1361A
c.G1361A

p.W454X
p.W454X

40.0

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

LYST

3-0221-000

chr1:
235990257-235990257

A

G

intronic

De novo

-

Trost2022 G

LYST

SP0131177

chr1:
235973506-235973506

T

C

exonic

De novo

synonymous SNV

NM_000081
NM_001301365

c.A612G
c.A612G

p.K204K
p.K204K

-

Trost2022 G

LYST

1-0107-003

chr1:
236041346-236041346

A

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

LYST

SSC03679

chr1:
235973332-235973332

T

C

exonic

De novo

synonymous SNV

NM_000081
NM_001301365

c.A786G
c.A786G

p.L262L
p.L262L

-

Fu2022 E
Lim2017 E
Trost2022 G

LYST

C220403

chr1:
235973821-235973821

C

T

exonic

De novo

synonymous SNV

NM_000081
NM_001301365

c.G297A
c.G297A

p.P99P
p.P99P

-

3.358E-5

Fu2022 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
	More