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Results for "KIF15"

Variant Events: 9

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
KIF15     1-0380-003chr3:
44875426-44875426
AGintronicDe novo--Yuen2017 G
KIF15     11178.p1chr3:
44894268-44894268
TCUTR3Mosaic Mat.-0.0012Dou2017 E
KIF15     SP0067349chr3:
44856567-44856567
ACexonicDe novosynonymous SNVNM_020242c.A2548Cp.R850R--Fu2022 E
KIF15     AU4496301chr3:
44890322-44890322
AGintronicDe novo--Yuen2017 G
KIF15     13298.p1chr3:
44880172-44880172
GAintronicDe novo--Turner2016 G
KIF15     SSC00239chr3:
44846523-44846523
GCexonicDe novononsynonymous SNVNM_020242c.G1692Cp.Q564H10.71-Fu2022 E
KIF15     A14chr3:
44835865-44835865
TAexonicDe novononsynonymous SNVNM_020242c.T796Ap.L266I21.6-Jiao2019 E
KIF15     A14chr3:
44835901-44835901
GAexonicDe novononsynonymous SNVNM_020242c.G832Ap.E278K27.6-Jiao2019 E
KIF15     AU3794302chr3:
44884645-44884645
GAexonicDe novononsynonymous SNVNM_020242c.G3614Ap.R1205H17.78-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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