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Results for "KCNU1"

Variant Events: 14

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
KCNU1     1-0520-003chr8:
36837957-36837957
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNU1     2-1194-003chr8:
36773871-36773891
AGAAGGAAGGAAGGAAGGAAGAGAAGGAAGGAAGGAAGintronicDe novo--Yuen2017 G
KCNU1     2-1231-003chr8:
36874190-36874190
TGintergenicDe novo--Yuen2016 G
Yuen2017 G
KCNU1     1-0175-003chr8:
36673329-36673329
GAintronicDe novo--Yuen2017 G
KCNU1     1-0441-003chr8:
36778228-36778242
TTGTGTGTGTGTGTGTTGTGTGTGTGTGintronicDe novo--Yuen2017 G
KCNU1     Lim2017:37347chr8:
36793231-36793231
TCexonicDe novosynonymous SNVNM_001031836c.T3243Cp.V1081V--Lim2017 E
KCNU1     1-0636-003chr8:
36921839-36921839
AGintergenicDe novo--Yuen2017 G
KCNU1     1-0175-004chr8:
36673329-36673329
GAintronicDe novo--Yuen2017 G
KCNU1     5-0103-003chr8:
36890335-36890335
GAintergenicDe novo--Yuen2017 G
KCNU1     2-0238-003chr8:
36743083-36743083
ACintronicDe novo--Yuen2017 G
KCNU1     1-0203-003chr8:
36697566-36697566
AGintronicDe novo--Yuen2017 G
KCNU1     14670.p1chr8:
36793231-36793231
TCexonicDe novosynonymous SNVNM_001031836c.T3243Cp.V1081V--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
KCNU1     12680.p1chr8:
36860124-36860124
GAintergenicDe novo--Turner2016 G
KCNU1     AU3888302chr8:
36898567-36898567
CGintergenicDe 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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