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Results for "NPAP1"

Variant Events: 14

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
NPAP1     11418.p1chr15:
24922551-24922551
ACexonicDe novosynonymous SNVNM_018958c.A1537Cp.R513R--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
NPAP1     7-0222-003chr15:
24981439-24981439
CTintergenicDe novo--Yuen2017 G
NPAP1     SSC00404chr15:
24922551-24922551
ACexonicDe novosynonymous SNVNM_018958c.A1537Cp.R513R--Lim2017 E
NPAP1     1-0627-005chr15:
24948617-24948617
AGintergenicDe novo--Yuen2017 G
NPAP1     1-0303-003chr15:
24962235-24962235
AAATGATintergenicDe novo--Yuen2017 G
NPAP1     3-0447-000chr15:
24978940-24978940
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NPAP1     1-0046-003chr15:
24995669-24995669
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
NPAP1     2-1184-003chr15:
24932573-24932573
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
NPAP1     3-0391-000chr15:
25047073-25047073
ACintergenicDe novo--Yuen2017 G
NPAP1     12680.p1chr15:
24920134-24920134
CTupstreamDe novo--Turner2016 G
NPAP1     1-0203-004chr15:
25049420-25049420
TCintergenicDe novo--Yuen2017 G
NPAP1     AU4231301chr15:
24930480-24930480
CAintergenicDe novo--Yuen2017 G
NPAP1     iHART1327chr15:
24923265-24923265
CCAGexonicPaternalframeshift insertionNM_018958c.2251_2252insAGp.Q751fs--Ruzzo2019 G
NPAP1     7-0024-003chr15:
24919949-24919949
CAupstreamDe 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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