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Results for "ZSWIM2"

Variant Events: 33

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
ZSWIM2     AU3730301chr2:
187830924-187830924
TCintergenicDe novo--Yuen2017 G
ZSWIM2     AU3779304chr2:
188035651-188035651
CTintergenicDe novo--Yuen2017 G
ZSWIM2     2-0286-003chr2:
187860902-187860902
TGintergenicDe novo--Yuen2017 G
ZSWIM2     2-1386-003chr2:
187986147-187986147
TAintergenicDe novo--Yuen2016 G
Yuen2017 G
ZSWIM2     AU3951302chr2:
187714521-187714522
CTCTGTGTGTupstreamDe novo--Yuen2017 G
ZSWIM2     1-0452-003chr2:
188118427-188118431
TAAACTintergenicDe novo--Yuen2016 G
ZSWIM2     iHART2505chr2:
187694505-187694506
CACexonicPaternalstopgainNM_182521c.1043delTp.L348X-2.474E-5Ruzzo2019 G
ZSWIM2     2-0503-003chr2:
187934553-187934553
ACintergenicDe novo--Yuen2017 G
ZSWIM2     2-0011-004chr2:
188201073-188201073
TGintergenicDe novo--Yuen2017 G
ZSWIM2     12778.p1chr2:
187998481-187998483
TAGTintergenicDe novo--Werling2018 G
ZSWIM2     iHART2991chr2:
187702067-187702068
AGAexonicPaternalframeshift deletionNM_182521c.708delCp.N236fs--Ruzzo2019 G
ZSWIM2     AU3721301chr2:
188126678-188126678
ATintergenicDe novo--Yuen2017 G
ZSWIM2     1-0498-003chr2:
187805717-187805717
TCintergenicDe novo--Yuen2017 G
ZSWIM2     A26chr2:
187939080-187939080
ATintergenicDe novo--Wu2018 G
ZSWIM2     1-0357-003chr2:
187784746-187784746
GAintergenicDe novo--Yuen2017 G
ZSWIM2     AU2427303chr2:
188042263-188042263
GAintergenicDe novo--Yuen2017 G
ZSWIM2     1-0566-003chr2:
188027565-188027565
GTintergenicDe novo--Yuen2017 G
ZSWIM2     AU4306302chr2:
187787167-187787167
CGintergenicDe novo--Yuen2017 G
ZSWIM2     1-0566-003chr2:
188027465-188027465
CTintergenicDe novo--Yuen2017 G
ZSWIM2     AU4273304chr2:
188043038-188043038
AGintergenicDe novo--Yuen2017 G
ZSWIM2     SSC10390chr2:
187694548-187694548
TCexonicDe novononsynonymous SNVNM_182521c.A1001Gp.N334S9.779-Lim2017 E
ZSWIM2     1-0024-003chr2:
187991480-187991480
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
ZSWIM2     14065.p1chr2:
187694548-187694548
TCexonicDe novononsynonymous SNVNM_182521c.A1001Gp.N334S9.779-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ZSWIM2     1-0158-003chr2:
188134274-188134274
ACintergenicDe novo--Yuen2017 G
ZSWIM2     AU1635302chr2:
187739221-187739221
CTintergenicDe novo--Yuen2017 G
ZSWIM2     1-0272-003chr2:
187847668-187847668
CAintergenicDe novo--Yuen2017 G
ZSWIM2     2-1315-003chr2:
187822269-187822269
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
ZSWIM2     2-0503-004chr2:
187934553-187934553
ACintergenicDe novo--Yuen2017 G
ZSWIM2     AU3175303chr2:
188163018-188163018
GCintergenicDe novo--Yuen2017 G
ZSWIM2     3-0469-000chr2:
188081470-188081471
CACintergenicDe novo--Yuen2017 G
ZSWIM2     AU4032305chr2:
187721936-187721936
GAintergenicDe novo--Yuen2017 G
ZSWIM2     1-0196-005chr2:
188181117-188181117
GAintergenicDe novo--Yuen2017 G
ZSWIM2     1-0252-003chr2:
188123928-188123928
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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