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Results for "C15orf62"

Variant Events: 8

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
C15orf62     12212.p1chr15:
41063220-41063220
ATexonicDe novostoplossNM_001130448c.A527Tp.X176L8.388-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
C15orf62     Li2017:16070chr15:
41062775-41062775
CTexonicUnknownstopgainNM_001130448c.C82Tp.R28X40.0-Li2017 T
C15orf62     mAGRE4877chr15:
41063132-41063132
CCTexonicPaternalframeshift insertionNM_001130448c.440dupTp.L147fs-2.0E-4Cirnigliaro2023 G
C15orf62     3-0707-000chr15:
41063835-41063835
TAUTR3De novo--Trost2022 G
C15orf62     mAGRE4876chr15:
41063132-41063132
CCTexonicPaternalframeshift insertionNM_001130448c.440dupTp.L147fs-2.0E-4Cirnigliaro2023 G
C15orf62     SP0014921chr15:
41063510-41063510
GCUTR3De novo--Fu2022 E
C15orf62     SP0187427chr15:
41062837-41062837
CAexonicDe novononsynonymous SNVNM_001130448c.C144Ap.N48K14.76-Trost2022 G
C15orf62     4891chr15:
41063220-41063220
ATexonicDe novostoplossNM_001130448c.A527Tp.X176L8.388-Trost2022 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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