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Results for "KIF17"

Variant Events: 10

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
KIF17     2-1373-003chr1:
21025885-21025885
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KIF17     PN400532chr1:
21031146-21031146
GAexonicDe novononsynonymous SNVNM_001122819
NM_001287212
NM_020816
c.C917T
c.C617T
c.C917T
p.T306M
p.T206M
p.T306M
26.91.649E-5Leblond2019 E
KIF17     PN400341chr1:
20998545-20998545
TAexonicUnknownnonsynonymous SNVNM_001122819
NM_001287212
NM_020816
c.A2608T
c.A2308T
c.A2608T
p.R870W
p.R770W
p.R870W
23.89.886E-5Leblond2019 E
KIF17     3-0185-000chr1:
21040279-21040279
TCintronicDe novo--Yuen2017 G
KIF17     2-1280-003chr1:
21021629-21021632
ACGCACintronicDe novo--Yuen2017 G
KIF17     1-0405-003chr1:
21016126-21016126
GAintronicDe novo--Yuen2017 G
KIF17     7-0168-003chr1:
21040547-21040547
GAintronicDe novo--Yuen2017 G
KIF17     iHART1199chr1:
21039945-21039945
ATsplicingPaternalsplicing19.28.561E-6Ruzzo2019 G
KIF17     2-1129-003chr1:
21028739-21028739
CGintronicDe novo--Yuen2016 G
Yuen2017 G
KIF17     13274.p1chr1:
21031010-21031010
GAexonicMosaicsynonymous SNVNM_001122819
NM_001287212
NM_020816
c.C1053T
c.C753T
c.C1053T
p.R351R
p.R251R
p.R351R
-1.0E-4Krupp2017 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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