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Results for "CDHR2"

Variant Events: 9

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
CDHR2     2-0171-003chr5:
176020256-176020256
ATintronicDe novo--Yuen2017 G
CDHR2     529-04-101932chr5:
176012066-176012066
GAintronicDe novo-2.0E-4Satterstrom2020 E
CDHR2     14247.p1chr5:
176011435-176011435
CGexonicMosaic, De novononsynonymous SNVNM_001171976
NM_017675
c.C2153G
c.C2153G
p.A718G
p.A718G
15.75-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
CDHR2     SSC11086chr5:
176011435-176011435
CGexonicDe novononsynonymous SNVNM_001171976
NM_017675
c.C2153G
c.C2153G
p.A718G
p.A718G
15.75-Lim2017 E
CDHR2     05C47323chr5:
176018533-176018533
GAintronicDe novo--Satterstrom2020 E
CDHR2     SP0043623chr5:
176005366-176005366
GAexonicDe novosynonymous SNVNM_001171976
NM_017675
c.G1575A
c.G1575A
p.G525G
p.G525G
--Feliciano2019 E
CDHR2     AU4263304chr5:
176008296-176008296
GAintronicDe novo--Yuen2017 G
CDHR2     08C74168chr5:
176017628-176017628
GAexonicDe novononsynonymous SNVNM_001171976
NM_017675
c.G3479A
c.G3479A
p.G1160E
p.G1160E
6.918-Satterstrom2020 E
CDHR2     2-0116-004chr5:
175976545-175976545
GAintronicDe 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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