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Results for "CC2D1A"

Variant Events: 6

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
CC2D1A     B0016chr19:
14023982-14023982
CTexonicUnknownnonsynonymous SNVNM_017721c.C380Tp.P127L11.38.123E-5Xiong2019 ET
CC2D1A     B0016chr19:
14040908-14040908
GAexonicUnknownnonsynonymous SNVNM_017721c.G2728Ap.E910K24.01.0E-4Xiong2019 ET
CC2D1A     12854.p1chr19:
14031646-14031646
GTexonicDe novostopgainNM_017721c.G1552Tp.E518X41.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CC2D1A     13968.p1chr19:
14037607-14037607
GAintronicDe novo, Mosaic--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
CC2D1A     12854_p1chr19:
14031646-14031646
GTexonicDe novostopgainNM_017721c.G1552Tp.E518X41.0-Fu2022 E
CC2D1A     AU3905301chr19:
14018272-14018272
AGintronicDe 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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