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Results for "KIF1B"

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
KIF1B     AU2129301chr1:
10449801-10449801
GAintergenicDe novo--Yuen2017 G
KIF1B     2-1398-004chr1:
10315846-10315850
ATTGTAintronicDe novo--Yuen2017 G
KIF1B     5-0077-003chr1:
10415941-10415941
TTTAintronicDe novo--Yuen2017 G
KIF1B     11946.p1chr1:
10311172-10311172
CTintronicDe novo--Werling2018 G
KIF1B     1-0990-003chr1:
10287481-10287481
AGintronicDe novo--Yuen2017 G
KIF1B     2-1116-003chr1:
10300735-10300735
AGintronicDe novo--Yuen2016 G
Yuen2017 G
KIF1B     EGAN00001101089chr1:
10316353-10316353
TGexonicDe novononsynonymous SNVNM_015074
NM_183416
c.T155G
c.T155G
p.F52C
p.F52C
25.4-Satterstrom2020 E
KIF1B     ASC_CA_81_Achr1:
10434983-10434983
TAexonicDe novononsynonymous SNVNM_015074c.T5030Ap.V1677D23.4-Satterstrom2020 E
KIF1B     1-0191-004chr1:
10313989-10313989
GAintronicDe novo--Yuen2017 G
KIF1B     EGAN00001101085chr1:
10380211-10380211
GAintronicDe novo--Satterstrom2020 E
KIF1B     2-1398-003chr1:
10315846-10315850
ATTGTAintronicDe novo--Yuen2017 G
KIF1B     2-0143-005chr1:
10331599-10331599
CTexonicDe novostopgainNM_015074
NM_183416
c.C760T
c.C760T
p.R254X
p.R254X
36.0-Yuen2015 G
KIF1B     PN400137chr1:
10425470-10425470
GAexonicUnknownnonsynonymous SNVNM_015074c.G4378Ap.E1460K35.00.0012Leblond2019 E
KIF1B     PN400576chr1:
10425470-10425470
GAexonicUnknownnonsynonymous SNVNM_015074c.G4378Ap.E1460K35.00.0012Leblond2019 E
KIF1B     PN400129chr1:
10425470-10425470
GAexonicUnknownnonsynonymous SNVNM_015074c.G4378Ap.E1460K35.00.0012Leblond2019 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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