or
or
Exact

Results for "CCR3"

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
CCR3     F9311-1chr3:
46306851-46306851
ATexonicDe novononsynonymous SNVNM_178329
NM_001164680
NM_001837
NM_178328
c.A202T
c.A256T
c.A202T
c.A265T
p.M68L
p.M86L
p.M68L
p.M89L
13.49-Satterstrom2020 E
CCR3     5-0133-003chr3:
46391813-46391813
AGintergenicDe novo--Yuen2017 G
CCR3     SSC10290chr3:
46307387-46307387
GAexonicDe novosynonymous SNVNM_178329
NM_001164680
NM_001837
NM_178328
c.G738A
c.G792A
c.G738A
c.G801A
p.A246A
p.A264A
p.A246A
p.A267A
-9.068E-5Lim2017 E
CCR3     13534.p1chr3:
46307288-46307288
CTexonicMosaicsynonymous SNVNM_178329
NM_001164680
NM_001837
NM_178328
c.C639T
c.C693T
c.C639T
c.C702T
p.L213L
p.L231L
p.L213L
p.L234L
-2.476E-5Dou2017 E
Krupp2017 E
CCR3     3-0430-000chr3:
46342339-46342339
CAintergenicDe novo--Yuen2016 G
CCR3     14068.p1chr3:
46307387-46307387
GAexonicDe novosynonymous SNVNM_178329
NM_001164680
NM_001837
NM_178328
c.G738A
c.G792A
c.G738A
c.G801A
p.A246A
p.A264A
p.A246A
p.A267A
-9.068E-5Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Source Variant Information

, -

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
More