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Results for "INPP5K"

Variant Events: 6

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
INPP5K     2-1239-003chr17:
1411432-1411432
CTexonicDe novononsynonymous SNVNM_016532
NM_130766
NM_001135642
c.G643A
c.G415A
c.G415A
p.G215S
p.G139S
p.G139S
2.80.0024Jiang2013 G
INPP5K     CC1131.202chr17:
1410358-1410358
GAexonicDe novononsynonymous SNVNM_016532
NM_130766
NM_001135642
c.C692T
c.C464T
c.C464T
p.P231L
p.P155L
p.P155L
6.362-Satterstrom2020 E
INPP5K     DEASD_1029_001chr17:
1412538-1412538
TCexonicDe novononsynonymous SNVNM_016532
NM_130766
NM_001135642
c.A488G
c.A260G
c.A260G
p.H163R
p.H87R
p.H87R
25.8-Satterstrom2020 E
INPP5K     2-0270-003chr17:
1409158-1409158
GAintronicDe novo--Yuen2017 G
INPP5K     11064.p1chr17:
1399077-1399077
CGUTR3De novo-2.0E-4Satterstrom2020 E
INPP5K     2-1269-003chr17:
1411432-1411432
CTexonicDe novononsynonymous SNVNM_016532
NM_130766
NM_001135642
c.G643A
c.G415A
c.G415A
p.G215S
p.G139S
p.G139S
2.80.0024Yuen2017 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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