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Results for "FOCAD"

Variant Events: 20

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
FOCAD     2-1127-003chr9:
20742221-20742221
CGintronicDe novo--Yuen2016 G
Yuen2017 G
FOCAD     2-1356-003chr9:
20799042-20799042
CGintronicDe novo--Yuen2016 G
Yuen2017 G
FOCAD     1-0389-003chr9:
20820997-20820997
TAexonicDe novononsynonymous SNVNM_017794c.T1720Ap.S574T8.188-Yuen2015 G
FOCAD     1-0125-003chr9:
20815126-20815145
TTTTTTTTTTGTTTTTTTTTTTTTTTTTTTintronicDe novo--Yuen2017 G
FOCAD     2-1127-003chr9:
20971918-20971918
GCintronicDe novo--Yuen2016 G
Yuen2017 G
FOCAD     2-1167-003chr9:
20770680-20770680
GAintronicDe novo--Yuen2016 G
Yuen2017 G
FOCAD     1-0186-004chr9:
20936930-20936930
AGintronicDe novo--Yuen2017 G
FOCAD     1-0552-003chr9:
20758610-20758610
CTintronicDe novo--Yuen2017 G
FOCAD     1-0186-005chr9:
20936930-20936930
AGintronicDe novo--Yuen2017 G
FOCAD     2-1415-004chr9:
20756853-20756853
AGintronicDe novo--Yuen2017 G
FOCAD     1-0978-003chr9:
20841820-20841820
GTintronicDe novo--Yuen2017 G
FOCAD     AU4433301chr9:
20883796-20883796
AGintronicDe novo--Yuen2017 G
FOCAD     ASDFI_1144chr9:
20926307-20926307
CTexonicDe novononsynonymous SNVNM_017794c.C2969Tp.P990L17.12-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
FOCAD     1-0010-005chr9:
20989629-20989629
GAintronicDe novo--Yuen2017 G
FOCAD     1-0507-003chr9:
20756280-20756280
ATintronicDe novo--Yuen2016 G
Yuen2017 G
FOCAD     AU4260303chr9:
20659782-20659782
AGintronicDe novo--Yuen2017 G
FOCAD     2-1356-003chr9:
20794136-20794136
ACintronicDe novo--Yuen2017 G
FOCAD     AU072005chr9:
20694533-20694533
TAUTR5De novo--Yuen2017 G
FOCAD     1-0757-003chr9:
20909777-20909777
CTintronicDe novo--Yuen2017 G
FOCAD     2-1356-003chr9:
20798634-20798634
ATintronicDe novo--Yuen2016 G
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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