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Results for "KIF13B"

Variant Events: 16

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
KIF13B     2-0028-003chr8:
29033775-29033775
TCintronicDe novo--Yuen2016 G
Yuen2017 G
KIF13B     2-1370-003chr8:
29034332-29034332
ACintronicDe novo--Yuen2016 G
Yuen2017 G
KIF13B     DEASD_0310_001chr8:
28976449-28976449
GCexonicDe novononsynonymous SNVNM_015254c.C3596Gp.T1199S17.72-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
KIF13B     7-0255-003chr8:
29076024-29076024
CAintronicDe novo--Yuen2017 G
KIF13B     2-1721-003chr8:
29004893-29004893
CAintronicDe novo--Yuen2017 G
KIF13B     AU2381302chr8:
28925466-28925466
CTUTR3De novo--Yuen2017 G
KIF13B     2-0116-004chr8:
28939612-28939612
TCintronicDe novo--Yuen2017 G
KIF13B     SSC03351chr8:
29005051-29005051
GAexonicDe novononsynonymous SNVNM_015254c.C1882Tp.R628C19.91-Lim2017 E
KIF13B     2-0296-003chr8:
29015609-29015610
CTCintronicDe novo--Yuen2017 G
KIF13B     14370.p1chr8:
29076881-29076881
AGintronicDe novo--Turner2016 G
KIF13B     AU1635302chr8:
29116690-29116694
TAATATAATAAATAintronicDe novo--Yuen2017 G
KIF13B     AU4159301chr8:
29129060-29129060
CTintergenicDe novo--Yuen2017 G
KIF13B     2-1277-003chr8:
29115931-29115931
GAintronicDe novo--Yuen2017 G
KIF13B     11658.p1chr8:
29005051-29005051
GAexonicDe novononsynonymous SNVNM_015254c.C1882Tp.R628C19.91-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
KIF13B     AU2089302chr8:
28943853-28943853
GAintronicDe novo--Yuen2017 G
KIF13B     AU056005chr8:
28929757-28929757
GAexonicDe novononsynonymous SNVNM_015254c.C4598Tp.A1533V14.143.861E-5Yuen2017 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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