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Results for "LYST"

Variant Events: 22

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     2-1444-003chr1:
236090792-236090792
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
LYST     1-0636-003chr1:
236039994-236039994
CAintronicDe novo--Yuen2017 G
LYST     AU1933302chr1:
235926182-235926182
ATintronicDe novo--Yuen2017 G
LYST     2-1526-003chr1:
235900884-235900884
TCintronicDe novo--Yuen2017 G
LYST     DEASD_0131_001chr1:
235915255-235915255
TAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
LYST     3-0169-000chr1:
235934659-235934659
CTintronicDe novo--Yuen2016 G
LYST     2-1456-004chr1:
236081835-236081835
AGintergenicDe novo--Yuen2017 G
LYST     5-0147-003chr1:
235885716-235885716
TCintronicDe novo--Yuen2017 G
LYST     AU3891303chr1:
235901479-235901479
CAintronicDe novo--Yuen2017 G
LYST     5-0015-003chr1:
236058266-236058266
CTintergenicDe novo--Yuen2017 G
LYST     SP0002657chr1:
235972757-235972757
CTexonicDe novostopgainNM_000081
NM_001301365
c.G1361A
c.G1361A
p.W454X
p.W454X
40.0-Feliciano2019 E
LYST     1-0107-003chr1:
236041346-236041346
AGintronicDe novo--Yuen2016 G
Yuen2017 G
LYST     1-0862-003chr1:
235981032-235981032
GGGTGAintronicDe novo--Yuen2017 G
LYST     12058.p1chr1:
235973332-235973332
TCexonicDe novosynonymous SNVNM_000081
NM_001301365
c.A786G
c.A786G
p.L262L
p.L262L
--Krumm2015 E
Satterstrom2020 E
LYST     17.s1chr1:
235896968-235896968
TAexonicDe novononsynonymous SNVNM_000081
NM_001301365
c.A8636T
c.A8636T
p.K2879I
p.K2879I
22.2-An2014 E
LYST     14637.p1chr1:
236057822-236057822
CAintergenicDe novo--Turner2016 G
LYST     14637.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
LYST     SSC03679chr1:
235973332-235973332
TCexonicDe novosynonymous SNVNM_000081
NM_001301365
c.A786G
c.A786G
p.L262L
p.L262L
--Lim2017 E
LYST     14637.p1chr1:
236057820-236057820
CTintergenicDe novo--Turner2016 G
LYST     1-0706-003chr1:
236128722-236128722
CTintergenicDe novo--Yuen2017 G
LYST     AU2950302chr1:
236011992-236011992
GAintronicDe novo--Yuen2017 G
LYST     14637.p1 Complex Event; expand row to view variants  De novo--Turner2016 G
Turner2016 G
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
Curation notesView
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