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Results for "KIF1A"

Variant Events: 15

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
KIF1A     PN400289chr2:
241658551-241658551
GAexonicUnknownnonsynonymous SNVNM_004321
NM_001244008
c.C4783T
c.C5086T
p.R1595C
p.R1696C
23.6-Leblond2019 E
KIF1A     AU2793302chr2:
241688815-241688815
ACintronicDe novo--Yuen2017 G
KIF1A     14260.p1chr2:
241680764-241680764
CTexonicMosaic, De novononsynonymous SNVNM_004321
NM_001244008
c.G3368A
c.G3671A
p.R1123Q
p.R1224Q
12.187.809E-5Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wilfert2021 G
KIF1A     12028.p1chr2:
241724471-241724471
CTexonicMosaicnonsynonymous SNVNM_004321
NM_001244008
c.G655A
c.G655A
p.A219T
p.A219T
29.8-Krupp2017 E
KIF1A     1-0389-004chr2:
241757985-241757987
TCCTintronicDe novo--Yuen2017 G
KIF1A     1-0225-003chr2:
241757088-241757088
CTintronicDe novo--Yuen2017 G
KIF1A     1-0433-003chr2:
241738625-241738625
GAintronicDe novo--Yuen2017 G
KIF1A     2-1276-003chr2:
241768880-241768880
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
KIF1A     AU4483301chr2:
241692021-241692021
GAintronicDe novo--Yuen2017 G
KIF1A     09C98909chr2:
241660401-241660401
CAexonicDe novononsynonymous SNVNM_004321
NM_001244008
c.G4495T
c.G4798T
p.V1499L
p.V1600L
7.7455.0E-4Satterstrom2020 E
KIF1A     AU3727302chr2:
241704584-241704584
CTintronicDe novo--Yuen2017 G
KIF1A     21870-36159chr2:
241696767-241696767
CTexonicInheritednonsynonymous SNVNM_001244008c.G2827Ap.D943N33.0-Callaghan2019 G
KIF1A     2-1093-003chr2:
241679858-241679858
GAintronicDe novo--Yuen2017 G
KIF1A     AU4153301chr2:
241789871-241789871
TCintergenicDe novo--Yuen2017 G
KIF1A     12614.p1chr2:
241706757-241706757
TCexonicMosaic Pat.synonymous SNVNM_004321
NM_001244008
c.A1476G
c.A1503G
p.P492P
p.P501P
-0.0212Dou2017 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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