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Results for "NAA16"

Variant Events: 15

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
NAA16     MT_59.3chr13:
41901241-41901241
TCintronicDe novo--Trost2022 G
NAA16     2-1212-003chr13:
41916117-41916117
GAintronicDe novo--Trost2022 G
NAA16     AU2697301chr13:
41898138-41898138
TGintronicDe novo--Trost2022 G
NAA16     5-5046-007chr13:
41899294-41899294
GAintronicDe novo--Trost2022 G
NAA16     9-0011-003chr13:
41884652-41884652
CCAAupstreamDe novo--Trost2022 G
NAA16     1-0244-003chr13:
41943833-41943833
AGintronicDe novo--Yuen2016 G
Yuen2017 G
NAA16     REACH000189chr13:
41890018-41890021
ACCTAintronicDe novo--Trost2022 G
NAA16     05HI3915Achr13:
41885670-41885670
GCexonicDe novosynonymous SNVNM_001110798
NM_018527
NM_024561
c.G6C
c.G6C
c.G6C
p.P2P
p.P2P
p.P2P
--Satterstrom2020 E
Trost2022 G
Zhou2022 GE
NAA16     2-0022-003chr13:
41928435-41928435
ACintronicDe novo--Trost2022 G
Yuen2017 G
NAA16     AU3782303chr13:
42014224-42014224
GAintergenicDe novo--Yuen2017 G
NAA16     AU023012chr13:
41938228-41938229
TCTintronicDe novo--Trost2022 G
NAA16     GEA365chr13:
41943359-41943363
TGAAGTexonicDe novoframeshift deletionNM_024561c.1888_1891delp.E630fs-8.351E-6Fu2022 E
NAA16     SMHC01648sfs0chr13:
41897318-41897318
AGexonicDe novononsynonymous SNVNM_001110798
NM_018527
NM_024561
c.A529G
c.A529G
c.A529G
p.T177A
p.T177A
p.T177A
24.7-Yuan2023 E
NAA16     AU003403chr13:
41960934-41960934
CTintergenicDe novo--Yuen2017 G
NAA16     SP0123550chr13:
41897189-41897189
TAintronicDe novo--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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