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Results for "KIF2A"

Variant Events: 14

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
KIF2A     14667.p1chr5:
61642937-61642937
TCintronicMosaic-0.3007Dou2017 E
KIF2A     1-0259-003chr5:
61636038-61636038
GAintronicDe novo--Yuen2017 G
KIF2A     AU3809302chr5:
61671715-61671715
CTintronicDe novo--Yuen2017 G
KIF2A     1-0022-003chr5:
61623858-61623858
AGintronicDe novo--Yuen2016 G
KIF2A     1-0022-004chr5:
61623858-61623858
AGintronicDe novo--Yuen2017 G
KIF2A     AU3713301chr5:
61619206-61619206
CTintronicDe novo--Yuen2017 G
KIF2A     1-0531-003chr5:
61666951-61666951
GAintronicDe novo--Yuen2016 G
Yuen2017 G
KIF2A     AU056804chr5:
61603173-61603173
GAintronicDe novo--Yuen2017 G
KIF2A     AU047704chr5:
61636257-61636258
AGAintronicDe novo--Yuen2017 G
KIF2A     AU066104chr5:
61665862-61665867
CTGTGTCTGTintronicDe novo--Yuen2017 G
KIF2A     05HI4559Achr5:
61654077-61654077
CTexonicDe novononsynonymous SNVNM_001098511
NM_001243953
NM_004520
NM_001243952
c.C823T
c.C766T
c.C823T
c.C763T
p.R275C
p.R256C
p.R275C
p.R255C
23.8-Satterstrom2020 E
KIF2A     Mahjani2021:107chr5:
61677022-61677022
TAexonicstopgainNM_001243953
NM_004520
NM_001098511
NM_001243952
c.T1920A
c.T1977A
c.T2091A
c.T1917A
p.Y640X
p.Y659X
p.Y697X
p.Y639X
37.0-Mahjani2021 E
KIF2A     AU2137304chr5:
61608555-61608555
TCintronicDe novo--Yuen2017 G
KIF2A     1-0160-004chr5:
61681329-61681329
GAexonicDe novononsynonymous SNVNM_001243953
NM_004520
NM_001098511
NM_001243952
c.G1997A
c.G2054A
c.G2168A
c.G1994A
p.R666H
p.R685H
p.R723H
p.R665H
18.3-Yuen2015 G
Yuen2017 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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