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Results for "CDHR3"

Variant Events: 16

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
CDHR3     AU005214chr7:
105644797-105644797
TCintronicDe novo--Yuen2017 G
CDHR3     AU2139305chr7:
105647297-105647297
CAintronicDe novo--Yuen2017 G
CDHR3     2-1094-004chr7:
105663245-105663245
CTintronicDe novo--Yuen2017 G
CDHR3     iHART2635chr7:
105673125-105673126
ACAexonicMaternalframeshift deletionNM_001301161
NM_152750
c.2377delC
c.2641delC
p.P793fs
p.P881fs
-5.864E-5Ruzzo2019 G
CDHR3     1-0354-006chr7:
105617960-105617960
CTintronicDe novo--Yuen2017 G
CDHR3     NDAR_INVCP020ZKM_wes1chr7:
105644979-105644979
CTexonicstopgainNM_001301161
NM_152750
c.C634T
c.C898T
p.R212X
p.R300X
34.01.0E-4Doan2019 E
CDHR3     1-0446-003chr7:
105680194-105680194
TCintergenicDe novo--Yuen2017 G
CDHR3     1-0049-004chr7:
105642056-105642056
TCexonicDe novosynonymous SNVNM_001301161
NM_152750
c.T598C
c.T862C
p.L200L
p.L288L
--Yuen2017 G
CDHR3     12796.p1chr7:
105655655-105655655
TCexonicDe novosynonymous SNVNM_001301161
NM_152750
c.T1059C
c.T1323C
p.Y353Y
p.Y441Y
-1.449E-5Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
CDHR3     AU2000302chr7:
105663108-105663108
AGintronicDe novo--Yuen2017 G
CDHR3     09C99930chr7:
105660995-105660995
ACintronicDe novo--Satterstrom2020 E
CDHR3     NDAR_INVLT348DHD_wes1chr7:
105655556-105655556
GAsplicingsplicing11.326.097E-5Doan2019 E
CDHR3     3-0438-000chr7:
105663505-105663505
AGintronicDe novo--Yuen2016 G
CDHR3     1-0393-003chr7:
105718481-105718481
AGintergenicDe novo--Yuen2017 G
CDHR3     1-0354-003chr7:
105617960-105617960
CTintronicDe novo--Yuen2017 G
CDHR3     1-0393-003chr7:
105663593-105663594
TATintronicDe 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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