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Results for "FERD3L"

Variant Events: 31

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
FERD3L     1-0976-003chr7:
19209660-19209660
GAintergenicDe novo--Yuen2017 G
FERD3L     1-0591-003chr7:
19195874-19195889
TTCTCTCTCTCTCTCTTTCTCTCTCTCTCTintergenicDe novo--Yuen2017 G
FERD3L     2-0028-003chr7:
19389221-19389221
GTintergenicDe novo--Yuen2016 G
Yuen2017 G
FERD3L     2-1089-004chr7:
19573760-19573760
AGintergenicDe novo--Yuen2017 G
FERD3L     2-1220-003chr7:
19733711-19733711
GAintergenicDe novo--Yuen2016 G
FERD3L     AU4410302chr7:
19479599-19479599
TCintergenicDe novo--Yuen2017 G
FERD3L     AU2787301chr7:
19641011-19641011
TCintergenicDe novo--Yuen2017 G
FERD3L     2-1305-003chr7:
19656645-19656645
CTintergenicDe novo--Yuen2017 G
FERD3L     7-0253-004chr7:
19727162-19727162
GAintergenicDe novo--Yuen2017 G
FERD3L     AU4183301chr7:
19433023-19433023
AGintergenicDe novo--Yuen2017 G
FERD3L     1-0405-003chr7:
19626934-19626934
TCintergenicDe novo--Yuen2017 G
FERD3L     1-0139-005chr7:
19277571-19277571
TAintergenicDe novo--Yuen2017 G
FERD3L     7-0077-003chr7:
19387470-19387470
GAintergenicDe novo--Yuen2017 G
FERD3L     13023.p1chr7:
19324646-19324646
TGintergenicDe novo--Turner2016 G
FERD3L     7-0175-003chr7:
19553237-19553237
AGintergenicDe novo--Yuen2017 G
FERD3L     AU012803chr7:
19630770-19630770
GCintergenicDe novo--Yuen2017 G
FERD3L     1-0804-003chr7:
19529923-19529923
CTintergenicDe novo--Yuen2017 G
FERD3L     AU4013303chr7:
19421679-19421679
AGintergenicDe novo--Yuen2017 G
FERD3L     2-1220-003chr7:
19733122-19733122
CGintergenicDe novo--Yuen2016 G
Yuen2017 G
FERD3L     AU3713301chr7:
19184001-19184001
ATdownstreamDe novo--Yuen2017 G
FERD3L     13808.p1chr7:
19344909-19344909
CCGintergenicDe novo--Werling2018 G
FERD3L     AU054303chr7:
19534477-19534477
CGintergenicDe novo--Yuen2017 G
FERD3L     AU3912301chr7:
19623340-19623340
ATintergenicDe novo--Yuen2017 G
FERD3L     2-0208-004chr7:
19445104-19445104
ATintergenicDe novo--Yuen2017 G
FERD3L     AU3912301chr7:
19623325-19623325
AGintergenicDe novo--Yuen2017 G
FERD3L     AU3846303chr7:
19465916-19465916
TCintergenicDe novo--Yuen2017 G
FERD3L     2-1255-003chr7:
19232243-19232243
GAintergenicDe novo--Yuen2017 G
FERD3L     2-0149-003chr7:
19571978-19571978
CGintergenicDe novo--Yuen2017 G
FERD3L     1-0394-003chr7:
19231963-19231963
CAintergenicDe novo--Yuen2017 G
FERD3L     2-1402-003chr7:
19474329-19474329
CTintergenicDe novo--Yuen2017 G
FERD3L     A10chr7:
19393257-19393257
GAintergenicDe novo--Wu2018 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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