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Results for "C16orf62"

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
C16orf62     AU072905chr16:
19584697-19584697
AGintronicDe novo--Yuen2017 G
C16orf62     7-0100-003chr16:
19654607-19654607
GTintronicDe novo--Yuen2017 G
C16orf62     AU2863302chr16:
19663046-19663046
GCintronicDe novo--Yuen2017 G
C16orf62     AU062204chr16:
19597152-19597152
AGintronicDe novo--Yuen2017 G
C16orf62     2-1112-003chr16:
19673696-19673696
GCintronicDe novo--Yuen2016 G
Yuen2017 G
C16orf62     SSC06920chr16:
19567064-19567064
CTexonicDe novononsynonymous SNVNM_001300743
NM_020314
c.C280T
c.C280T
p.P94S
p.P94S
15.98-Lim2017 E
C16orf62     2-1466-003chr16:
19660241-19660241
AGintronicDe novo--Yuen2016 G
C16orf62     iHART2102chr16:
19663379-19663379
CTexonicMaternalstopgainNM_001300743
NM_020314
c.C2176T
c.C2455T
p.Q726X
p.Q819X
39.01.0E-4Ruzzo2019 G
C16orf62     13324.p1chr16:
19567064-19567064
CTexonicDe novononsynonymous SNVNM_001300743
NM_020314
c.C280T
c.C280T
p.P94S
p.P94S
15.98-Ji2016 E
Krumm2015 E
Krupp2017 E
Satterstrom2020 E
Turner2016 G
C16orf62     AU3768302chr16:
19668447-19668447
CTintronicDe 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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