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Results for "NPC1"

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
NPC1     iHART3078chr18:
21113327-21113331
CTGAGCexonicPaternalframeshift deletionNM_000271c.3742_3745delp.L1248fs-4.126E-5Ruzzo2019 G
NPC1     AC531.201chr18:
21119978-21119978
TCintronicDe novo--Kosmicki2017 E
NPC1     iHART3077chr18:
21113327-21113331
CTGAGCexonicPaternalframeshift deletionNM_000271c.3742_3745delp.L1248fs-4.126E-5Ruzzo2019 G
NPC1     1-0507-003chr18:
21134914-21134914
GAexonicDe novononsynonymous SNVNM_000271c.C1361Tp.T454I10.52-Yuen2016 G
Yuen2017 G
NPC1     AU3702307chr18:
21169326-21169326
CTintergenicDe novo--Yuen2017 G
NPC1     11.s1chr18:
21119400-21119400
CTexonicDe novononsynonymous SNVNM_000271c.G2830Ap.D944N33.01.762E-5An2014 E
NPC1     2-0002-005chr18:
21166935-21166955
CGGCGGGGCGGGGCGGGGCGGCGGCGGGGCGGGGCGGupstreamDe novo--Yuen2017 G
NPC1     13629.p1chr18:
21166678-21166678
GAupstreamDe novo--Wilfert2021 G
NPC1     AU063004chr18:
21167849-21167849
TCintergenicDe novo--Yuen2017 G
NPC1     14339.p1chr18:
21119978-21119978
TCintronicDe novo--Krumm2015 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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