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Results for "ZSWIM1"

Variant Events: 6

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
ZSWIM1     SP0052017chr20:
44511411-44511411
CTexonicDe novosynonymous SNVNM_080603c.C180Tp.T60T-8.237E-6Trost2022 G
ZSWIM1     AU2019302chr20:
44510470-44510470
TCintronicDe novo--Trost2022 G
Yuen2017 G
ZSWIM1     11793_p1chr20:
44511940-44511940
GTexonicDe novononsynonymous SNVNM_080603c.G709Tp.D237Y18.86-Fu2022 E
ZSWIM1     111308chr20:
44511962-44511962
GAexonicnonsynonymous SNVNM_080603c.G731Ap.R244H22.28.247E-6Woodbury-Smith2022 E
ZSWIM1     AU041Achr20:
44511799-44511799
GAexonicDe novononsynonymous SNVNM_080603c.G568Ap.V190M6.8513.296E-5DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ZSWIM1     08C72947chr20:
44512213-44512213
CTexonicDe novononsynonymous SNVNM_080603c.C982Tp.H328Y12.93-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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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