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Results for "AKNA"

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
AKNA     11215.p1chr9:
117103870-117103870
GAexonicDe novononsynonymous SNVNM_030767c.C4010Tp.P1337L13.591.649E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
AKNA     Lim2017:11002chr9:
117136374-117136374
TGexonicDe novononsynonymous SNVNM_030767c.A1415Cp.K472T25.1-Lim2017 E
AKNA     1-0826-003chr9:
117152373-117152373
CTintronicDe novo--Yuen2017 G
AKNA     7-0273-003chr9:
117096071-117096071
TCdownstreamDe novo--Yuen2017 G
AKNA     iHART2764chr9:
117103929-117103930
CGCexonicPaternalframeshift deletionNM_030767c.3950delCp.S1317fs--Ruzzo2019 G
AKNA     1-0214-003chr9:
117121999-117122016
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCexonicDe novononframeshift deletionNM_030767c.2350_2352delp.784_784del--Yuen2017 G
AKNA     iHART2763chr9:
117103929-117103930
CGCexonicPaternalframeshift deletionNM_030767c.3950delCp.S1317fs--Ruzzo2019 G
AKNA     Kim2020:A12chr9:
117104343-117104343
ATexonicDe novononsynonymous SNVNM_030767c.T3820Ap.C1274S15.91-Kim2020 E
AKNA     1-0225-003chr9:
117096156-117096156
TAdownstreamDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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