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Results for "CA2"

Variant Events: 13

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
CA2     1-0214-003chr8:
86522120-86522120
CTintergenicDe novo--Yuen2017 G
CA2     5-0106-003chr8:
86522852-86522853
ACAintergenicDe novo--Yuen2017 G
CA2     2-1237-003chr8:
86388247-86388247
GAintronicDe novo--Yuen2017 G
CA2     AU-10501chr8:
86377699-86377699
GAsplicingsplicing24.61.039E-5Doan2019 E
CA2     13630.p1chr8:
86392904-86392904
GAexonicMosaic, De novosynonymous SNVNM_001293675
NM_000067
c.G366A
c.G669A
p.L122L
p.L223L
--Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CA2     AU1308303chr8:
86525188-86525188
TCintergenicDe novo--Yuen2017 G
CA2     2-0256-004chr8:
86522936-86522936
TCintergenicDe novo--Yuen2017 G
CA2     NDAR_INVEY051YHZ_wes1chr8:
86377699-86377699
GAsplicingsplicing24.61.039E-5Doan2019 E
CA2     AU3698301chr8:
86399005-86399005
TCintergenicDe novo--Yuen2017 G
CA2     1-0304-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
CA2     AU3302302chr8:
86527895-86527895
GCintergenicDe novo--Yuen2017 G
CA2     SSC08980chr8:
86392904-86392904
GAexonicDe novosynonymous SNVNM_001293675
NM_000067
c.G366A
c.G669A
p.L122L
p.L223L
--Lim2017 E
CA2     1-0065-004chr8:
86508072-86508072
GGCCAintergenicDe 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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