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Results for "NAT10"

Variant Events: 9

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
NAT10     AU4237302chr11:
34138383-34138383
CGintronicDe novo--Yuen2017 G
NAT10     SP0061832chr11:
34144081-34144081
CTexonicDe novostopgainNM_001144030
NM_024662
c.C640T
c.C856T
p.R214X
p.R286X
38.0-Fu2022 E
NAT10     5-0050-003chr11:
34155706-34155706
AGintronicDe novo--Yuen2017 G
NAT10     iHART1742chr11:
34130306-34130308
CATCexonicPaternalframeshift deletionNM_024662c.127_128delp.M43fs--Ruzzo2019 G
NAT10     SP0058702chr11:
34139913-34139913
CTintronicDe novo--Fu2022 E
NAT10     SP0051061chr11:
34163346-34163346
GTexonicDe novononsynonymous SNVNM_001144030
NM_024662
c.G2577T
c.G2793T
p.K859N
p.K931N
10.17-Fu2022 E
NAT10     SP0056899chr11:
34144225-34144225
ACintronicDe novo--Fu2022 E
NAT10     13515.p1chr11:
34146527-34146527
ACintronicDe novo--Turner2016 G
NAT10     SJD_10chr11:
34167721-34167721
AAAexonicMaternalframeshift insertionNM_001144030
NM_024662
c.2844dupA
c.3060dupA
p.K948fs
p.K1020fs
--Toma2013 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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