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Results for "KIF2C"

Variant Events: 5

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
KIF2C     2-1266-003chr1:
45214051-45214051
CGintronicDe novo--Yuen2016 G
Yuen2017 G
KIF2C     12671.p1chr1:
45216103-45216103
CTintronicDe novo-2.698E-5Krumm2015 E
Satterstrom2020 E
KIF2C     1-0231-004chr1:
45220053-45220053
GCintronicDe novo--Yuen2017 G
KIF2C     111308chr1:
45227607-45227607
GAexonicnonsynonymous SNVNM_001297655
NM_001297656
NM_001297657
NM_006845
c.G1580A
c.G1541A
c.G1364A
c.G1703A
p.G527D
p.G514D
p.G455D
p.G568D
31.0-Woodbury-Smith2022 E
KIF2C     3E475chr1:
45218830-45218830
GTexonicDe novononsynonymous SNVNM_001297656
NM_001297657
NM_006845
c.G304T
c.G127T
c.G466T
p.A102S
p.A43S
p.A156S
10.36-Satterstrom2020 E
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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