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Results for "BBS9"

Variant Events: 40

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
BBS9     AU2333302chr7:
33602341-33602343
TCCTCintronicDe novo--Yuen2017 G
BBS9     2-1402-003chr7:
33617045-33617045
ATintronicDe novo--Yuen2017 G
BBS9     2-1184-003chr7:
33511491-33511491
GAintronicDe novo--Yuen2016 G
Yuen2017 G
BBS9     AU045512chr7:
33232515-33232515
ACintronicDe novo--Yuen2017 G
BBS9     1-0541-003chr7:
33183259-33183259
CGintronicDe novo--Yuen2017 G
BBS9     AU4067303chr7:
33584929-33584929
AGintronicDe novo--Yuen2017 G
BBS9     1-0708-003chr7:
33645040-33645040
CTUTR3De novo--Yuen2017 G
BBS9     AU024607chr7:
33574432-33574432
CTintronicDe novo--Yuen2017 G
BBS9     1-0377-003chr7:
33923210-33923210
CAintergenicDe novo--Yuen2017 G
BBS9     AU4260303chr7:
33381749-33381749
TAintronicDe novo--Yuen2017 G
BBS9     5-0099-003chr7:
33614395-33614395
AGintronicDe novo--Yuen2017 G
BBS9     5-0003-004chr7:
33634373-33634373
AGintronicDe novo--Yuen2017 G
BBS9     1-0559-004chr7:
33510134-33510134
CTintronicDe novo--Yuen2017 G
BBS9     2-1350-004chr7:
33375158-33375158
CTintronicDe novo--Yuen2017 G
BBS9     AU075803chr7:
33412447-33412447
CAintronicDe novo--Yuen2017 G
BBS9     AU3955303chr7:
33943455-33943455
GAintergenicDe novo--Yuen2017 G
BBS9     AU3713302chr7:
33622705-33622705
TCintronicDe novo--Yuen2017 G
BBS9     1-0560-003chr7:
33935392-33935392
TCintergenicDe novo--Yuen2017 G
BBS9     2-1425-004chr7:
33836719-33836719
CTintergenicPaternal--Yuen2017 G
BBS9     5-0054-003chr7:
33427205-33427205
GTintronicDe novo--Yuen2017 G
BBS9     11491.p1chr7:
33376045-33376045
TCintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
BBS9     2-1507-003chr7:
33712404-33712404
ACintergenicDe novo--Yuen2017 G
BBS9     2-1186-003chr7:
33315613-33315613
CAintronicDe novo--Yuen2016 G
BBS9     2-1186-003chr7:
33939618-33939618
ACintergenicDe novo--Yuen2016 G
Yuen2017 G
BBS9     2-0210-004chr7:
33763881-33763881
CTintergenicDe novo--Yuen2017 G
BBS9     5-0064-003chr7:
33850555-33850555
GCintergenicDe novo--Yuen2017 G
BBS9     AU2381302chr7:
33455424-33455424
GAintronicDe novo--Yuen2017 G
BBS9     11572.p1chr7:
33846384-33846384
CTintergenicDe novo--Turner2016 G
BBS9     2-1296-003chr7:
33941100-33941100
CGintergenicDe novo--Yuen2017 G
BBS9     12568.p1chr7:
33914698-33914698
GAintergenicDe novo--Turner2016 G
BBS9     2-1715-003chr7:
33453492-33453492
CTintronicDe novo--Yuen2017 G
BBS9     1-0677-003chr7:
33597949-33597949
CAintronicDe novo--Yuen2017 G
BBS9     1-0553-003chr7:
33404811-33404811
TCintronicDe novo--Yuen2017 G
BBS9     2-0214-003chr7:
33618854-33618854
CAintronicDe novo--Yuen2017 G
BBS9     7-0250-003chr7:
33476067-33476067
AGintronicDe novo--Yuen2017 G
BBS9     AU2123302chr7:
33384202-33384202
GAexonicDe novononsynonymous SNVNM_001033604
NM_001033605
NM_014451
NM_198428
c.G1285A
c.G1285A
c.G1285A
c.G1285A
p.D429N
p.D429N
p.D429N
p.D429N
7.9068.236E-6Yuen2017 G
BBS9     5-0109-003chr7:
33206470-33206470
CGintronicDe novo--Yuen2017 G
BBS9     3-0185-000chr7:
33496262-33496262
GAintronicDe novo--Yuen2017 G
BBS9     2-0063-005chr7:
33253106-33253106
ATintronicDe novo--Yuen2017 G
BBS9     2-1425-003chr7:
33836719-33836719
CTintergenicPaternal--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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