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Results for "NPEPL1"

Variant Events: 5

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
NPEPL1     SP0037672chr20:
57290369-57290369
GAexonicnonsynonymous SNVNM_024663
NM_001204872
NM_001204873
c.G1559A
c.G1475A
c.G1415A
p.R520H
p.R492H
p.R472H
19.098.274E-5Zhou2022 GE
NPEPL1     Wang2023:735chr20:
57268039-57268039
TAexonicDe novononsynonymous SNVNM_024663c.T83Ap.L28Q7.467-Wang2023 E
NPEPL1     mAGRE4716chr20:
57289642-57289643
TGTexonicMaternalframeshift deletionNM_024663
NM_001204872
NM_001204873
c.1330delG
c.1246delG
c.1186delG
p.A444fs
p.A416fs
p.A396fs
--Cirnigliaro2023 G
NPEPL1     111292chr20:
57289091-57289091
CTexonicnonsynonymous SNVNM_024663
NM_001204872
NM_001204873
c.C1244T
c.C1160T
c.C1100T
p.P415L
p.P387L
p.P367L
29.4-Woodbury-Smith2022 E
NPEPL1     SP0000406chr20:
57287587-57287587
GAexonicDe novononsynonymous SNVNM_024663
NM_001204872
NM_001204873
c.G953A
c.G869A
c.G809A
p.G318E
p.G290E
p.G270E
18.57-Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
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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