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Results for "C16orf45"

Variant Events: 10

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
C16orf45     1-0597-003chr16:
15647819-15647819
GTintronicDe novo--Yuen2017 G
C16orf45     5-0133-003chr16:
15656929-15656929
TTTGintronicDe novo--Yuen2017 G
C16orf45     2-1184-003chr16:
15681718-15681731
ATGTGTGTGTGTGTATGTGTGTGTGTUTR3De novo--Yuen2017 G
C16orf45     AU2410301chr16:
15610722-15610722
AGintronicDe novo--Yuen2017 G
C16orf45     2-1357-003chr16:
15680686-15680686
GAexonicDe novosynonymous SNVNM_001142469
NM_033201
c.G564A
c.G615A
p.X188X
p.X205X
--Yuen2015 G
Yuen2017 G
C16orf45     13748.p1chr16:
15574307-15574307
CTintronicDe novo--Werling2018 G
C16orf45     1-0772-003chr16:
15566454-15566455
TCTintronicDe novo--Yuen2017 G
C16orf45     iHART1883chr16:
15675072-15675072
AGsplicingMaternalsplicing22.22.0E-4Ruzzo2019 G
C16orf45     7-0247-003chr16:
15584438-15584438
CAintronicDe novo--Yuen2017 G
C16orf45     iHART1884chr16:
15675072-15675072
AGsplicingMaternalsplicing22.22.0E-4Ruzzo2019 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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