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Results for "ADGRF5"

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
ADGRF5     2-0297-004chr6:
46859728-46859728
GAintronicDe novo--Yuen2017 G
ADGRF5     A20chr6:
46866255-46866255
ACintronicDe novo--Wu2018 G
ADGRF5     AU3862305chr6:
46889069-46889069
CTintronicDe novo--Yuen2017 G
ADGRF5     1-0272-004chr6:
46888183-46888183
GAintronicDe novo--Yuen2017 G
ADGRF5     13520.p1chr6:
46824684-46824684
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ADGRF5     12857.p1chr6:
46826970-46826970
GAexonicDe novosynonymous SNVNM_001098518
NM_015234
c.C2670T
c.C2670T
p.N890N
p.N890N
--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ADGRF5     1-0467-005chr6:
46828245-46828245
TTTCACTAATAAAintronicDe novo--Yuen2017 G
ADGRF5     1-0651-003chr6:
46824916-46824916
CGintronicDe 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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