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Results for "LOC729159"

Variant Events: 41

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
LOC729159    AU2433303chr16:
60606085-60606089
AACCAAAintergenicDe novo--Yuen2017 G
LOC729159    1-0669-003chr16:
60688509-60688509
CTintergenicDe novo--Yuen2017 G
LOC729159    2-1526-003chr16:
60994350-60994350
AGintergenicDe novo--Yuen2017 G
LOC729159    AU4154303chr16:
60770199-60770199
TCintergenicDe novo--Yuen2017 G
LOC729159    A15chr16:
60608687-60608687
GAintergenicDe novo--Wu2018 G
LOC729159    AU2089301chr16:
60495492-60495492
ATintergenicDe novo--Yuen2017 G
LOC729159    AU3918302chr16:
60628075-60628075
GAintergenicDe novo--Yuen2017 G
LOC729159    5-0125-003chr16:
60810903-60810903
TAintergenicDe novo--Yuen2017 G
LOC729159    2-0198-005chr16:
60761875-60761875
CTintergenicDe novo--Yuen2017 G
LOC729159    2-1356-003chr16:
60589357-60589357
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC729159    AU2458303chr16:
60573836-60573836
CTintergenicDe novo--Yuen2017 G
LOC729159    2-1169-004chr16:
60768995-60768995
CTintergenicDe novo--Yuen2017 G
LOC729159    1-0079-008chr16:
60902227-60902227
CTintergenicDe novo--Yuen2017 G
LOC729159    3-0661-000chr16:
60846657-60846657
GAintergenicDe novo--Yuen2017 G
LOC729159    AU0636303chr16:
60459928-60459928
CAintergenicDe novo--Yuen2017 G
LOC729159    AU4211304chr16:
60904847-60904847
AGintergenicDe novo--Yuen2017 G
LOC729159    AU1355301chr16:
60858284-60858284
ATintergenicDe novo--Yuen2017 G
LOC729159    1-0051-005chr16:
61081964-61081964
TTTGintergenicDe novo--Yuen2017 G
LOC729159    2-1336-003chr16:
60838958-60838967
GTAACCTCAAGintergenicDe novo--Yuen2017 G
LOC729159    AU3175303chr16:
60932505-60932505
CAintergenicDe novo--Yuen2017 G
LOC729159    1-0261-003chr16:
60651001-60651001
CAintergenicDe novo--Yuen2017 G
LOC729159    2-1486-003chr16:
61015938-61015938
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC729159    2-1486-003chr16:
60461793-60461793
GAintergenicDe novo--Yuen2016 G
Yuen2017 G
LOC729159    2-1336-004chr16:
60709415-60709415
AGintergenicDe novo--Yuen2017 G
LOC729159    AU005213chr16:
60595051-60595051
GAintergenicDe novo--Yuen2017 G
LOC729159    AU2139301chr16:
61029798-61029798
GAintergenicDe novo--Yuen2017 G
LOC729159    AU2293301chr16:
61032854-61032854
CAintergenicDe novo--Yuen2017 G
LOC729159    1-0708-003chr16:
60525073-60525073
CTintergenicDe novo--Yuen2017 G
LOC729159    2-0045-003chr16:
60525118-60525118
CTintergenicDe novo--Yuen2017 G
LOC729159    2-0198-004chr16:
60761875-60761875
CTintergenicDe novo--Yuen2017 G
LOC729159    2-1268-003chr16:
60824147-60824147
CTintergenicDe novo--Yuen2016 G
LOC729159    AU066404chr16:
60462783-60462788
GAGAAGGAGintergenicDe novo--Yuen2017 G
LOC729159    2-1487-003chr16:
60587261-60587261
GAintergenicDe novo--Yuen2017 G
LOC729159    AU2793303chr16:
60685520-60685520
CTintergenicDe novo--Yuen2017 G
LOC729159    AU3702307chr16:
60785433-60785433
AGintergenicDe novo--Yuen2017 G
LOC729159    1-0344-003chr16:
60567719-60567719
TCintergenicDe novo--Yuen2017 G
LOC729159    7-0095-004chr16:
60746792-60746792
CAintergenicDe novo--Yuen2017 G
LOC729159    5-0110-003chr16:
60615401-60615401
TGintergenicDe novo--Yuen2017 G
LOC729159    AU3760301chr16:
60404989-60404989
CTintergenicDe novo--Yuen2017 G
LOC729159    11089.p1chr16:
60715363-60715363
TCintergenicDe novo--Turner2016 G
LOC729159    2-0129-004chr16:
61005337-61005337
GAintergenicDe 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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