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Results for "PIKFYVE"

Variant Events: 17

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
PIKFYVE     AU005214chr2:
209190466-209190466
AGexonicDe novosynonymous SNVNM_015040c.A2931Gp.E977E--Yuen2017 G
PIKFYVE     AU031004chr2:
209167182-209167182
ATintronicDe novo--Yuen2017 G
PIKFYVE     2-1335-003chr2:
209190632-209190632
TAexonicDe novononsynonymous SNVNM_015040c.T3097Ap.S1033T0.0338.247E-6Yuen2015 G
Yuen2017 G
PIKFYVE     AU3371305chr2:
209143039-209143039
AGintronicDe novo--Yuen2017 G
PIKFYVE     PN400508chr2:
209179036-209179036
GAexonicUnknownnonsynonymous SNVNM_015040c.G1715Ap.R572Q29.10.0016Leblond2019 E
PIKFYVE     AU011021chr2:
209165709-209165709
ACexonicDe novononsynonymous SNVNM_152671
NM_001178000
NM_015040
c.A808C
c.A1099C
c.A1099C
p.S270R
p.S367R
p.S367R
20.1-Yuen2017 G
PIKFYVE     iHART2300chr2:
209136416-209136416
GAsplicingMaternalsplicing20.8-Ruzzo2019 G
PIKFYVE     1-0552-003chr2:
209219439-209219439
CAintronicDe novo--Yuen2017 G
PIKFYVE     AU2711303chr2:
209157262-209157262
AGintronicDe novo--Yuen2017 G
PIKFYVE     SP0026933chr2:
209190211-209190211
GCexonicDe novosynonymous SNVNM_015040c.G2676Cp.L892L--Feliciano2019 E
PIKFYVE     iHART2298chr2:
209136416-209136416
GAsplicingMaternalsplicing20.8-Ruzzo2019 G
PIKFYVE     1-0565-004chr2:
209156146-209156146
GAintronicDe novo--Yuen2017 G
PIKFYVE     1-0454-003chr2:
209177897-209177897
TAintronicDe novo--Yuen2016 G
Yuen2017 G
PIKFYVE     11679.p1chr2:
209150500-209150500
CTexonicDe novononsynonymous SNVNM_152671
NM_001178000
NM_015040
c.C373T
c.C664T
c.C664T
p.H125Y
p.H222Y
p.H222Y
14.918.237E-6Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PIKFYVE     14341.p1chr2:
209217389-209217389
GAexonicMosaic, De novosynonymous SNVNM_015040c.G5727Ap.A1909A-6.64E-5Dou2017 E
Iossifov2014 E
Kosmicki2017 E
PIKFYVE     DEASD_0169_001chr2:
209167007-209167007
GAexonicDe novononsynonymous SNVNM_152671
NM_001178000
NM_015040
c.G959A
c.G1250A
c.G1250A
p.R320H
p.R417H
p.R417H
30.08.24E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
PIKFYVE     AU2089301chr2:
209158378-209158378
CTintronicDe novo--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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