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Results for "KIF21B"

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
KIF21B     2-0028-003chr1:
200979596-200979596
CTintronicDe novo--Yuen2016 G
Yuen2017 G
KIF21B     AU051504chr1:
200967153-200967153
GAintronicDe novo--Yuen2017 G
KIF21B     SP0006651chr1:
200956014-200956014
GAexonicDe novononsynonymous SNVNM_001252100
NM_001252102
NM_001252103
NM_017596
c.C3647T
c.C3647T
c.C3647T
c.C3647T
p.P1216L
p.P1216L
p.P1216L
p.P1216L
23.21.657E-5Feliciano2019 E
KIF21B     1-0352-005chr1:
200985466-200985466
TCintronicDe novo--Yuen2017 G
KIF21B     AU3051302chr1:
200954243-200954243
TCintronicDe novo--Yuen2017 G
KIF21B     1-0914-003chr1:
200977685-200977685
CTintronicDe novo--Yuen2017 G
KIF21B     1335001chr1:
200945946-200945946
CGexonicDe novononsynonymous SNVNM_001252103
NM_017596
NM_001252100
NM_001252102
c.G4362C
c.G4362C
c.G4401C
c.G4401C
p.Q1454H
p.Q1454H
p.Q1467H
p.Q1467H
9.194-Satterstrom2020 E
KIF21B     1792-23269chr1:
200969864-200969864
GAexonicInheritednonsynonymous SNVNM_001252100
NM_001252102
NM_001252103
NM_017596
c.C1447T
c.C1447T
c.C1447T
c.C1447T
p.R483W
p.R483W
p.R483W
p.R483W
23.6-Callaghan2019 G
KIF21B     AU038203chr1:
200953521-200953521
ACintronicDe novo--Yuen2017 G
KIF21B     1-0352-003chr1:
200985466-200985466
TCintronicDe novo--Yuen2016 G
KIF21B     12424.p1chr1:
200950048-200950048
GCintronicDe novo--Satterstrom2020 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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