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Results for "KIF13A"

Variant Events: 22

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
KIF13A     1-0656-003chr6:
18021491-18021494
GTTTGTTTTintergenicDe novo--Yuen2017 G
KIF13A     1-0736-003chr6:
17846232-17846232
TGintronicDe novo--Yuen2017 G
KIF13A     11592.p1chr6:
17773790-17773790
TCexonicMosaicnonsynonymous SNVNM_001105567
NM_001105568
NM_001105566
NM_022113
c.A4204G
c.A4204G
c.A4243G
c.A4243G
p.M1402V
p.M1402V
p.M1415V
p.M1415V
2.4580.0221Dou2017 E
KIF13A     1-0259-005chr6:
18013083-18013083
CAintergenicDe novo--Yuen2017 G
KIF13A     AU3729301chr6:
17759547-17759547
AGUTR3De novo--Yuen2017 G
KIF13A     AU1894304chr6:
17852250-17852250
CTexonicDe novononsynonymous SNVNM_001105566
NM_001105567
NM_001105568
NM_022113
c.G518A
c.G518A
c.G518A
c.G518A
p.R173Q
p.R173Q
p.R173Q
p.R173Q
35.0-Yuen2017 G
KIF13A     SP0018753chr6:
17837268-17837268
GAexonicDe novosynonymous SNVNM_001105566
NM_001105567
NM_001105568
NM_022113
c.C996T
c.C996T
c.C996T
c.C996T
p.A332A
p.A332A
p.A332A
p.A332A
-8.281E-5Feliciano2019 E
KIF13A     2-1170-003chr6:
17977201-17977201
CTintronicDe novo--Yuen2017 G
KIF13A     2-1427-003chr6:
17927262-17927262
TGintronicDe novo--Yuen2017 G
KIF13A     AU4028302chr6:
18011768-18011768
CTintergenicDe novo--Yuen2017 G
KIF13A     PN400391chr6:
17764960-17764960
AGexonicUnknownnonsynonymous SNVNM_001105567
NM_001105568
NM_001105566
NM_022113
c.T4655C
c.T4655C
c.T4694C
c.T4799C
p.F1552S
p.F1552S
p.F1565S
p.F1600S
26.80.0044Leblond2019 E
KIF13A     11572.p1chr6:
17909648-17909648
ATintronicDe novo--Turner2016 G
KIF13A     1-0524-003chr6:
17938956-17938956
TCintronicDe novo--Yuen2016 G
Yuen2017 G
KIF13A     2-1369-003chr6:
18010647-18010647
TGintergenicDe novo--Yuen2017 G
KIF13A     AU3790302chr6:
17811955-17811955
ACintronicDe novo--Yuen2017 G
KIF13A     PN400182chr6:
17764960-17764960
AGexonicUnknownnonsynonymous SNVNM_001105567
NM_001105568
NM_001105566
NM_022113
c.T4655C
c.T4655C
c.T4694C
c.T4799C
p.F1552S
p.F1552S
p.F1565S
p.F1600S
26.80.0044Leblond2019 E
KIF13A     5-0129-003chr6:
17979253-17979253
CTintronicDe novo--Yuen2017 G
KIF13A     1-0400-003chr6:
18009478-18009478
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
KIF13A     2-1093-009chr6:
17831756-17831756
TCintronicDe novo--Yuen2017 G
KIF13A     1-0408-003chr6:
17908797-17908797
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KIF13A     PN400220chr6:
17764960-17764960
AGexonicInherited, Unknownnonsynonymous SNVNM_001105567
NM_001105568
NM_001105566
NM_022113
c.T4655C
c.T4655C
c.T4694C
c.T4799C
p.F1552S
p.F1552S
p.F1565S
p.F1600S
26.80.0044Leblond2019 E
Leblond2019 E
KIF13A     AU076704chr6:
18047099-18047099
ATintergenicDe novo--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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