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Results for "KIF5C"

Variant Events: 62

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
KIF5C     3-0458-000chr2:
149833323-149833323
GAintronicDe novo--Yuen2016 G
KIF5C     Li2017:20736chr2:
149866772-149866772
CTexonicUnknownnonsynonymous SNVNM_004522c.C2674Tp.R892W20.9-Li2017 T
KIF5C     TAS_F8030Ychr2:
149835519-149835519
AATintronicDe novo--Satterstrom2020 E
KIF5C     PN400393chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     1-0352-005chr2:
149688016-149688016
AGintronicDe novo--Yuen2017 G
KIF5C     1-0006-003chr2:
149660978-149660978
CTintronicDe novo--Yuen2017 G
KIF5C     PN400273chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400543chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400260chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400524chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     Li2017:19574chr2:
149853826-149853826
CTexonicUnknownnonsynonymous SNVNM_004522c.C2072Tp.T691M23.28.316E-6Li2017 T
KIF5C     PN400499chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400341chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400195chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400125chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400220chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     09C86230chr2:
149679797-149679797
GAsplicingUnknownsplicing27.7-Wang2020 T
Wang2020 T
KIF5C     05C43772chr2:
149679779-149679779
CTexonicUnknownnonsynonymous SNVNM_004522c.C200Tp.A67V31.0-Wang2020 T
Wang2020 T
KIF5C     1-0534-006chr2:
149814116-149814116
AAACintronicDe novo--Yuen2017 G
KIF5C     PN400369chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     AU2123301chr2:
149806544-149806544
GAintronicDe novo--Yuen2017 G
KIF5C     2-1485-003chr2:
149852273-149852273
CGintronicDe novo--Yuen2017 G
KIF5C     PN400282chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     AU3368303chr2:
149658358-149658358
TCintronicDe novo--Yuen2017 G
KIF5C     PN400544chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     AU3712301chr2:
149820979-149820979
GAintronicDe novo--Yuen2017 G
KIF5C     PN400412chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     78887023chr2:
149847617-149847617
CTexonicUnknownnonsynonymous SNVNM_004522c.C1810Tp.R604C28.12.531E-5Wang2020 T
Wang2020 T
KIF5C     Li2017:19764chr2:
149868146-149868146
GAexonicUnknownnonsynonymous SNVNM_004522c.G2830Ap.G944R25.61.657E-5Li2017 T
KIF5C     AU4315302chr2:
149799337-149799337
GAintronicDe novo--Yuen2017 G
KIF5C     PN400261chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400575chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400119chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     63620629chr2:
149806406-149806406
TCexonicUnknownsynonymous SNVNM_004522c.T768Cp.N256N-8.615E-6Wang2020 T
Wang2020 T
Wang2020 T
KIF5C     1-0219-003chr2:
149790724-149790724
CCTintronicDe novo--Yuen2017 G
KIF5C     AU3955303chr2:
149806864-149806864
CTexonicDe novononsynonymous SNVNM_004522c.C856Tp.R286W23.9-Wang2020 T
Yuen2017 G
KIF5C     PN400533chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     SP0020473chr2:
149855020-149855020
GAexonicDe novononsynonymous SNVNM_004522c.G2207Ap.R736Q14.18-Feliciano2019 E
KIF5C     Z8T5Mchr2:
149851025-149851025
GAexonicUnknownnonsynonymous SNVNM_004522c.G1996Ap.E666K33.0-Wang2020 T
Wang2020 T
Wang2020 T
KIF5C     A20chr2:
149800359-149800359
GTintronicDe novo--Wu2018 G
KIF5C     PN400283chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     07C69441chr2:
149851025-149851025
GAexonicUnknownnonsynonymous SNVNM_004522c.G1996Ap.E666K33.0-Wang2020 T
Wang2020 T
KIF5C     09C98436chr2:
149806406-149806406
TCexonicUnknownsynonymous SNVNM_004522c.T768Cp.N256N-8.615E-6Wang2020 T
Wang2020 T
KIF5C     2-0202-004chr2:
149790681-149790681
AACintronicDe novo--Yuen2017 G
KIF5C     1-0278-003chr2:
149654408-149654408
CTintronicDe novo--Yuen2016 G
KIF5C     PN400507chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     1-0352-003chr2:
149688016-149688016
AGintronicDe novo--Yuen2016 G
KIF5C     PN400179chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400407chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     GD0218.p1chr2:
149847631-149847631
CTexonicPaternalsynonymous SNVNM_004522c.C1824Tp.L608L-3.358E-5Wang2020 T
Wang2020 T
KIF5C     PN400564chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     HEN0155.p1chr2:
149866772-149866772
CTexonicPaternalnonsynonymous SNVNM_004522c.C2674Tp.R892W20.9-Wang2020 T
Wang2020 T
KIF5C     PN400542chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400312chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     1-0559-004chr2:
149790724-149790724
CCTintronicDe novo--Yuen2017 G
KIF5C     PN400498chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     PN400113chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 E
KIF5C     Li2017:28507chr2:
149840197-149840197
AGexonicUnknownnonsynonymous SNVNM_004522c.A1633Gp.K545E33.0-Li2017 T
KIF5C     AU4033303chr2:
149646955-149646955
GCintronicDe novo--Yuen2017 G
KIF5C     14532.p1chr2:
149861884-149861884
TGintronicDe novo--Krumm2015 E
Satterstrom2020 E
KIF5C     2-1485-004chr2:
149852273-149852273
CGintronicDe novo--Yuen2017 G
KIF5C     PN400246chr2:
149806440-149806440
GTexonicUnknownnonsynonymous SNVNM_004522c.G802Tp.A268S33.08.154E-5Leblond2019 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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