or
or
Exact

Results for "CNBD1"

Variant Events: 51

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
CNBD1     AU3865301chr8:
88221217-88221217
GAintronicDe novo--Yuen2017 G
CNBD1     2-1722-003chr8:
88130975-88130975
TAintronicDe novo--Yuen2017 G
CNBD1     AU0452304chr8:
88543582-88543582
ACintergenicDe novo--Yuen2017 G
CNBD1     2-0018-004chr8:
88688547-88688547
AGintergenicDe novo--Yuen2017 G
CNBD1     2-1376-003chr8:
88341339-88341339
GAintronicDe novo--Yuen2017 G
CNBD1     1-0028-003chr8:
88213861-88213862
ACAintronicDe novo--Yuen2017 G
CNBD1     1-0871-003chr8:
88255922-88255922
GCintronicDe novo--Yuen2017 G
CNBD1     2-0244-003chr8:
88857463-88857463
TCintergenicDe novo--Yuen2017 G
CNBD1     A28chr8:
88513244-88513244
CTintergenicDe novo--Wu2018 G
CNBD1     AU0780301chr8:
88023909-88023914
CATTATCATintronicDe novo--Yuen2017 G
CNBD1     2-0264-004chr8:
88298963-88298963
TCintronicDe novo--Yuen2017 G
CNBD1     AU3648301chr8:
87903531-87903531
GAintronicDe novo--Yuen2017 G
CNBD1     2-0022-003chr8:
88457796-88457796
AGintergenicDe novo--Yuen2017 G
CNBD1     AU045514chr8:
88324289-88324289
TGintronicDe novo--Yuen2017 G
CNBD1     2-1452-003chr8:
88489752-88489752
CAintergenicDe novo--Yuen2016 G
Yuen2017 G
CNBD1     1-0218-003chr8:
88785607-88785607
AGintergenicDe novo--Yuen2017 G
CNBD1     AU3760302chr8:
87928502-87928502
GAintronicDe novo--Yuen2017 G
CNBD1     3-0246-000chr8:
88705032-88705032
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
CNBD1     AU4199303chr8:
88455092-88455092
AGintergenicDe novo--Yuen2017 G
CNBD1     2-1066-004chr8:
88290280-88290280
CAintronicDe novo--Yuen2017 G
CNBD1     7-0023-003chr8:
88102871-88102871
ATintronicDe novo--Yuen2017 G
CNBD1     AU4129303chr8:
88556842-88556842
TGintergenicDe novo--Yuen2017 G
CNBD1     1-0834-003chr8:
88763990-88763990
CTintergenicDe novo--Yuen2017 G
CNBD1     Shi2013:1chr8:
88218368-88218368
TCsplicingInheritedsplicing12.056.076E-5Shi2013 G
CNBD1     1-0777-003chr8:
87906397-87906397
CGintronicDe novo--Yuen2017 G
CNBD1     AU011704chr8:
88533560-88533560
AGintergenicDe novo--Yuen2017 G
CNBD1     7-0247-003chr8:
88654792-88654792
TCintergenicDe novo--Yuen2017 G
CNBD1     5-0061-003chr8:
88075816-88075816
GAintronicDe novo--Yuen2017 G
CNBD1     AU3727303chr8:
88431119-88431119
TGintergenicDe novo--Yuen2017 G
CNBD1     AU3874303chr8:
88537769-88537770
ACAintergenicDe novo--Yuen2017 G
CNBD1     AU4093301chr8:
88069482-88069482
GAintronicDe novo--Yuen2017 G
CNBD1     AU4033304chr8:
88562880-88562880
GAintergenicDe novo--Yuen2017 G
CNBD1     1-0032-003chr8:
88578986-88578989
CTCTCintergenicDe novo--Yuen2017 G
CNBD1     1-0289-003chr8:
88679410-88679410
GTintergenicDe novo--Yuen2017 G
CNBD1     AU4212303chr8:
88289700-88289700
CTintronicDe novo--Yuen2017 G
CNBD1     1-0381-003chr8:
88574972-88574972
GTintergenicDe novo--Yuen2017 G
CNBD1     1-0935-003chr8:
88288446-88288446
AGintronicDe novo--Yuen2017 G
CNBD1     AU3057302chr8:
88760620-88760620
GAintergenicDe novo--Yuen2017 G
CNBD1     2-0286-003chr8:
87907920-87907920
GCintronicDe novo--Yuen2017 G
CNBD1     AU4231301chr8:
88339694-88339694
CTintronicDe novo--Yuen2017 G
CNBD1     1-0345-003chr8:
88148420-88148420
TGintronicDe novo--Yuen2017 G
CNBD1     AU026412chr8:
88365176-88365176
TGintronicDe novo--Yuen2017 G
CNBD1     2-1529-003chr8:
87990480-87990480
AGintronicDe novo--Yuen2017 G
CNBD1     1-0985-003chr8:
88848585-88848585
CTintergenicDe novo--Yuen2017 G
CNBD1     2-1382-003chr8:
88723039-88723039
GAintergenicDe novo--Yuen2016 G
CNBD1     2-1497-003chr8:
88422662-88422662
TGintergenicDe novo--Yuen2017 G
CNBD1     Shi2013:2chr8:
88218368-88218368
TCsplicingInheritedsplicing12.056.076E-5Shi2013 G
CNBD1     AU3874302chr8:
88338885-88338885
GTintronicDe novo--Yuen2017 G
CNBD1     74-0352chr8:
88205378-88205378
GAintronicDe novo--Michaelson2012 G
CNBD1     74-0117chr8:
88533560-88533560
AGintergenicDe novo--Michaelson2012 G
CNBD1     13543.p1chr8:
88443020-88443020
GAintergenicDe novo--Turner2016 G
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