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Results for "KIF3C"

Variant Events: 11

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
KIF3C     1-0286-004chr2:
26241850-26241850
AGintergenicDe novo--Yuen2017 G
KIF3C     1-0336-003chr2:
26194679-26194679
CGintronicDe novo--Yuen2017 G
KIF3C     2-0272-004chr2:
26165881-26165881
TCintronicDe novo--Yuen2017 G
KIF3C     1-0186-004chr2:
26217069-26217069
GAintergenicDe novo--Yuen2017 G
KIF3C     2-1399-003chr2:
26250870-26250870
TAintergenicDe novo--Yuen2017 G
KIF3C     DEASD_0016_001chr2:
26203250-26203250
TCexonicDe novononsynonymous SNVNM_002254c.A1537Gp.K513E15.55-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KIF3C     2-0019-004chr2:
26151538-26151538
CTUTR3De novo--Yuen2017 G
KIF3C     AU072504chr2:
26162337-26162337
GTintronicDe novo--Yuen2017 G
KIF3C     AU3997302chr2:
26220414-26220414
CAintergenicDe novo--Yuen2017 G
KIF3C     09C99711chr2:
26203995-26203995
TTGexonicDe novoframeshift insertionNM_002254c.791dupCp.A264fs-8.586E-6Satterstrom2020 E
KIF3C     A16chr2:
26238185-26238185
TCintergenicDe novo--Wu2018 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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