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Results for "CMKLR1"

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
CMKLR1     1-0345-004chr12:
108715185-108715185
GAintronicDe novo--Yuen2017 G
CMKLR1     A18chr12:
108804808-108804808
GAintergenicDe novo--Wu2018 G
CMKLR1     1-0345-003chr12:
108715185-108715185
GAintronicDe novo--Yuen2017 G
CMKLR1     2-0122-003chr12:
108704950-108704950
AGintronicDe novo--Yuen2017 G
CMKLR1     5-0133-003chr12:
108694426-108694426
CGintronicDe novo--Yuen2017 G
CMKLR1     AU2437302chr12:
108846729-108846730
CTCTTintergenicDe novo--Yuen2017 G
CMKLR1     AU3302302chr12:
108698499-108698499
CTintronicDe novo--Yuen2017 G
CMKLR1     AU063004chr12:
108752696-108752696
TCintergenicDe novo--Yuen2017 G
CMKLR1     AU4308302chr12:
108692803-108692803
CTintronicDe novo--Yuen2017 G
CMKLR1     AU003405chr12:
108780270-108780270
TCintergenicDe 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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