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Results for "NUAK1"

Variant Events: 16

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
NUAK1     SSC07552chr12:
106461269-106461269
GAexonicDe novostopgainNM_014840c.C1297Tp.Q433X48.0-Lim2017 E
NUAK1     Lim2017:36823chr12:
106460608-106460608
GAexonicDe novononsynonymous SNVNM_014840c.C1958Tp.A653V33.05.075E-5Lim2017 E
NUAK1     1-0885-003chr12:
106469609-106469609
TCintronicDe novo--Yuen2017 G
NUAK1     1-0533-003chr12:
106558441-106558441
CTintergenicDe novo--Yuen2017 G
NUAK1     5-0088-003chr12:
106474834-106474834
GAintronicDe novo--Yuen2017 G
NUAK1     M19599chr12:
106460608-106460608
GAexonicPaternalnonsynonymous SNVNM_014840c.C1958Tp.A653V33.05.075E-5Guo2018 T
Wang2016 T
NUAK1     2-1521-003chr12:
106572243-106572243
CTintergenicDe novo--Yuen2017 G
NUAK1     AU4356302chr12:
106486005-106486005
CTintronicDe novo--Yuen2017 G
NUAK1     AU2156303chr12:
106538417-106538417
TCintergenicDe novo--Yuen2017 G
NUAK1     14540.p1chr12:
106460608-106460608
GAexonicDe novononsynonymous SNVNM_014840c.C1958Tp.A653V33.05.075E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
NUAK1     13349.p1chr12:
106461269-106461269
GAexonicDe novostopgainNM_014840c.C1297Tp.Q433X48.0-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
NUAK1     12793.p1chr12:
106576826-106576826
CAintergenicDe novo--Turner2016 G
NUAK1     M19749chr12:
106480544-106480544
GCexonicMaternalnonsynonymous SNVNM_014840c.C481Gp.Q161E35.0-Guo2018 T
Wang2016 T
NUAK1     1-0269-003chr12:
106473239-106473239
CAintronicDe novo--Yuen2017 G
NUAK1     5-0114-003chr12:
106521645-106521645
CTintronicDe novo--Yuen2017 G
NUAK1     2-1132-003chr12:
106478387-106478387
GAintronicDe novo--Yuen2017 G
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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